Lecithin-cholesterol acyltransferase deficiency (LCATD) and fish-eye disease (FED)

Alternative name(s) : Lecithin_cholesterol acyltransferase deficiency, LCAT deficiency, Norum disease, fish-eye disease (FED), fish eye disease

Gene_locus : human-LCAT

Mutation : 91 mutations S208T_human-LCAT M293I_human-LCAT insG141_human-LCAT N228K_human-LCAT P10fsX17_human-LCAT P10L_human-LCAT P10Q_human-LCAT R135Q_human-LCAT T123I_human-LCAT T347M_human-LCAT M252K_human-LCAT L209P_human-LCAT R135W_human-LCAT Q376Tfs40_human-LCAT T321M_human-LCAT Y83X_human-LCAT L300del_human-LCAT N131D_human-LCAT R140H_human-LCAT IVS4-22T>C_human-LCAT G33R_human-LCAT Dupl.aa-6>4_human-LCAT G30S_human-LCAT P406L_human-LCAT E388K_human-LCAT E354K_human-LCAT V348del_human-LCAT V317M_human-LCAT Y312C_human-LCAT R276H_human-LCAT K53R_human-LCAT -14X_human-LCAT T-13M_human-LCAT N5I_human-LCAT T13M_human-LCAT S19fsX26_human-LCAT R23fsX76_human-LCAT V28M_human-LCAT L32P_human-LCAT H35fsX61_human-LCAT V46E_human-LCAT W61X_human-LCAT G71fsX77_human-LCAT W75R_human-LCAT V90M_human-LCAT S91P_human-LCAT R99C_human-LCAT G104S_human-LCAT IVS3-23C>A_human-LCAT T138fsX144_human-LCAT R140C_human-LCAT A141T_human-LCAT Y144C_human-LCAT Y156N_human-LCAT M167fsX239_human-LCAT Y171X_human-LCAT L177fsX214_human-LCAT I178T_human-LCAT S181N_human-LCAT G183S_human-LCAT L187fsX228_human-LCAT A211T_human-LCAT K218N_human-LCAT G230R_human-LCAT K240fsX257_human-LCAT R244C_human-LCAT R244H_human-LCAT P250R_human-LCAT P254fsX260_human-LCAT H263fsX385_human-LCAT T274A_human-LCAT T274I_human-LCAT D277N_human-LCAT P307S_human-LCAT V309M_human-LCAT C337Y_human-LCAT G344S_human-LCAT G344V_human-LCAT L372R_human-LCAT F382V_human-LCAT N391S_human-LCAT R399C_human-LCAT R147W_human-LCAT M293T_human-LCAT P69L_human-LCAT C51Y_human-LCAT G179R_human-LCAT G71R_human-LCAT A93T_human-LCAT R158C_human-LCAT G95R_human-LCAT

OMIM : 606967 , 245900 , 136120

Comment
LCAT facilitates the removal of excess cholesterol from peripheral tissues to the liver. A lack of LCAT activity would be expected to lead to accumulation of free cholesterol in the tissues. The gene encoding LCAT on chromosome 16 is the site of the mutation in both lecithin-cholesterol acyltransferase deficiency (LCATD) (Norum disease) and fish-eye disease(FED). Two phenotypic forms are found: familial LCAT deficiency and fish-eye disease. Familial LCAT deficiency is associated with a complete absence of alpha and beta LCAT activities and results in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. In fish-eye disease, there is only a partial LCAT deficiency that affects only alpha-LCAT activity. It is characterized by low plasma HDL and corneal opacities due to accumulation of cholesterol deposits in the cornea ('fish-eye').there is a specific inability of LCAT to esterify cholesterol in HDL, a deficiency of alpha-LCAT function. See LCAT Mutation database<\/A>

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Gene_locus related to this paper: human-LCAT

Title : Molecular analysis of a novel LCAT mutation (Gly179 --> Arg) found in a patient with complete LCAT deficiency - Wang_2011_J.Atheroscler.Thromb_18_713
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Gene_locus related to this paper: human-LCAT

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Gene_locus related to this paper: human-LCAT

Title : Characterization of a new LCAT mutation causing familial LCAT deficiency (FLD) and the role of APOE as a modifier gene of the FLD phenotype - Baass_2009_Atherosclerosis_207_452
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Ref : Clinical Chemistry & Laboratory Medicine , 36 :443 , 1998
Abstract :
PubMedSearch : Cirera_1998_Clin.Chem.Lab.Med_36_443
PubMedID: 9746267

Title : Molecular genetic study of Finns with hypoalphalipoproteinemia and hyperalphalipoproteinemia: a novel Gly230 Arg mutation (LCAT[Fin]) of lecithin:cholesterol acyltransferase (LCAT) accounts for 5\% of cases with very low serum HDL cholesterol levels - Miettinen_1998_Arterioscler.Thromb.Vasc.Biol_18_591
Author(s) : Miettinen HE , Gylling H , Tenhunen J , Virtamo J , Jauhiainen M , Huttunen JK , Kantola I , Miettinen TA , Kontula K
Ref : Arterioscler Thromb Vasc Biol , 18 :591 , 1998
Abstract :
PubMedSearch : Miettinen_1998_Arterioscler.Thromb.Vasc.Biol_18_591
PubMedID: 9555865

Title : Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband - Argyropoulos_1998_J.Lipid.Res_39_1870
Author(s) : Argyropoulos G , Jenkins A , Klein RL , Lyons T , Wagenhorst B , St Armand J , Marcovina SM , Albers JJ , Pritchard PH , Garvey WT
Ref : J Lipid Res , 39 :1870 , 1998
Abstract :
PubMedSearch : Argyropoulos_1998_J.Lipid.Res_39_1870
PubMedID: 9741700

Title : Familial lecithin:cholesterol acyltransferase deficiency: molecular analysis of a compound heterozygote: LCAT (Arg147 --> Trp) and LCAT (Tyr171 --> Stop) - Guerin_1997_Atherosclerosis_131_85
Author(s) : Guerin M , Dachet C , Goulinet S , Chevet D , Dolphin PJ , Chapman MJ , Rouis M
Ref : Atherosclerosis , 131 :85 , 1997
Abstract :
PubMedSearch : Guerin_1997_Atherosclerosis_131_85
PubMedID: 9180249

Title : Molecular basis of fish-eye disease in a patient from Spain. Characterization of a novel mutation in the LCAT gene and lipid analysis of the cornea - Blanco-Vaca_1997_Arterioscler.Thromb.Vasc.Biol_17_1382
Author(s) : Blanco-Vaca F , Qu SJ , Fiol C , Fan HZ , Pao Q , Marzal-Casacuberta A , Albers JJ , Hurtado I , Gracia V , Pinto X , Marti T , Pownall HJ
Ref : Arterioscler Thromb Vasc Biol , 17 :1382 , 1997
Abstract :
PubMedSearch : Blanco-Vaca_1997_Arterioscler.Thromb.Vasc.Biol_17_1382
PubMedID: 9261271

Title : A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease - Contacos_1996_J.Lipid.Res_37_35
Author(s) : Contacos C , Sullivan DR , Rye KA , Funke H , Assmann G
Ref : J Lipid Res , 37 :35 , 1996
Abstract :
PubMedSearch : Contacos_1996_J.Lipid.Res_37_35
PubMedID: 8820100

Title : An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease) - Kuivenhoven_1996_J.Clin.Invest_98_358
Author(s) : Kuivenhoven JA , Weibusch H , Pritchard PH , Funke H , Benne R , Assmann G , Kastelein JJ
Ref : J Clinical Investigation , 98 :358 , 1996
Abstract :
PubMedSearch : Kuivenhoven_1996_J.Clin.Invest_98_358
PubMedID: 8755645

Title : Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene -
Author(s) : Owen JS , Wiebusch H , Cullen P , Watts GF , Lima VL , Funke H , Assmann G
Ref : Hum Mutat , 8 :79 , 1996
PubMedID: 8807342

Title : A novel missense mutation (Asn5-->Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency - Okubo_1996_Int.J.Clin.Lab.Res_26_250
Author(s) : Okubo M , Aoyama Y , Shio H , Albers JJ , Murase T
Ref : Int J Clin Lab Res , 26 :250 , 1996
Abstract :
PubMedSearch : Okubo_1996_Int.J.Clin.Lab.Res_26_250
PubMedID: 9007616

Title : Lecithin: cholesterol acyltransferase deficiency: identification of two defective alleles in fibroblast cDNA - Miller_1995_J.Lipid.Res_36_931
Author(s) : Miller M , Zeller K , Kwiterovich PC , Albers JJ , Feulner G
Ref : J Lipid Res , 36 :931 , 1995
Abstract :
PubMedSearch : Miller_1995_J.Lipid.Res_36_931
PubMedID: 7658165

Title : Two novel point mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in LCAT deficiency: LCAT (G873 deletion) and LCAT (Gly344-->Ser) - Moriyama_1995_J.Lipid.Res_36_2329
Author(s) : Moriyama K , Sasaki J , Arakawa F , Takami N , Maeda E , Matsunaga A , Takada Y , Midorikawa K , Yanase T , Yoshino G , Marcovina SM , Albers JJ , Arakawa K
Ref : J Lipid Res , 36 :2329 , 1995
Abstract :
PubMedSearch : Moriyama_1995_J.Lipid.Res_36_2329
PubMedID: 8656071

Title : A single G to A nucleotide transition in exon IV of the lecithin: cholesterol acyltransferase (LCAT) gene results in an Arg140 to His substitution and causes LCAT-deficiency - Steyrer_1995_Hum.Genet_96_105
Author(s) : Steyrer E , Haubenwallner S , Horl G , Giessauf W , Kostner GM , Zechner R
Ref : Hum Genet , 96 :105 , 1995
Abstract :
PubMedSearch : Steyrer_1995_Hum.Genet_96_105
PubMedID: 7607641

Title : A unique genetic and biochemical presentation of fish-eye disease - Kuivenhoven_1995_J.Clin.Invest_96_2783
Author(s) : Kuivenhoven JA , van Voorst tot Voorst EJ , Wiebusch H , Marcovina SM , Funke H , Assmann G , Pritchard PH , Kastelein JJ
Ref : J Clinical Investigation , 96 :2783 , 1995
Abstract :
PubMedSearch : Kuivenhoven_1995_J.Clin.Invest_96_2783
PubMedID: 8675648

Title : Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene -
Author(s) : Wiebusch H , Cullen P , Owen JS , Collins D , Sharp PS , Funke H , Assmann G
Ref : Hum Mol Genet , 4 :143 , 1995
PubMedID: 7711728
Gene_locus related to this paper: human-LCAT

Title : Two different allelic mutations in a Finnish family with lecithin:cholesterol acyltransferase deficiency - Miettinen_1995_Arterioscler.Thromb.Vasc.Biol_15_460
Author(s) : Miettinen H , Gylling H , Ulmanen I , Miettinen TA , Kontula K
Ref : Arterioscler Thromb Vasc Biol , 15 :460 , 1995
Abstract :
PubMedSearch : Miettinen_1995_Arterioscler.Thromb.Vasc.Biol_15_460
PubMedID: 7749857
Gene_locus related to this paper: human-LCAT

Title : [Familial LCAT deficiency] - Kinoshita_1994_Nihon.Rinsho_52_3210
Author(s) : Kinoshita M
Ref : Nihon Rinsho , 52 :3210 , 1994
Abstract :
PubMedSearch : Kinoshita_1994_Nihon.Rinsho_52_3210
PubMedID: 7853712
Gene_locus related to this paper: human-LCAT

Title : Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye disease - Rader_1994_J.Clin.Invest_93_321
Author(s) : Rader DJ , Ikewaki K , Duverger N , Schmidt H , Pritchard H , Frohlich J , Clerc M , Dumon MF , Fairwell T , Zech L , Santamarina-Fojo S , Brewer HB, Jr. , et al.
Ref : J Clinical Investigation , 93 :321 , 1994
Abstract :
PubMedSearch : Rader_1994_J.Clin.Invest_93_321
PubMedID: 8282802

Title : Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn) - Klein_1993_J.Lipid.Res_34_49
Author(s) : Klein HG , Lohse P , Duverger N , Albers JJ , Rader DJ , Zech LA , Santamarina-Fojo S , Brewer HB, Jr.
Ref : J Lipid Res , 34 :49 , 1993
Abstract :
PubMedSearch : Klein_1993_J.Lipid.Res_34_49
PubMedID: 8445342

Title : Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis - Klein_1993_J.Clin.Invest_92_479
Author(s) : Klein HG , Santamarina-Fojo S , Duverger N , Clerc M , Dumon MF , Albers JJ , Marcovina S , Brewer HB, Jr.
Ref : J Clinical Investigation , 92 :479 , 1993
Abstract :
PubMedSearch : Klein_1993_J.Clin.Invest_92_479
PubMedID: 8326012

Title : Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease - Funke_1993_J.Clin.Invest_91_677
Author(s) : Funke H , von Eckardstein A , Pritchard PH , Hornby AE , Wiebusch H , Motti C , Hayden MR , Dachet C , Jacotot B , Gerdes U , Faergeman O , Albers JJ , Colleoni N , Catapano A , Frohlich J , Assmann G
Ref : J Clinical Investigation , 91 :677 , 1993
Abstract :
PubMedSearch : Funke_1993_J.Clin.Invest_91_677
PubMedID: 8432868
Gene_locus related to this paper: human-LCAT

Title : Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent - Kastelein_1992_J.Intern.Med_231_413
Author(s) : Kastelein JJ , Pritchard PH , Erkelens DW , Kuivenhoven JA , Albers JJ , Frohlich JJ
Ref : J Intern Med , 231 :413 , 1992
Abstract :
PubMedSearch : Kastelein_1992_J.Intern.Med_231_413
PubMedID: 1588268

Title : An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease - Skretting_1992_Biochem.Biophys.Res.Commun_182_583
Author(s) : Skretting G , Prydz H
Ref : Biochemical & Biophysical Research Communications , 182 :583 , 1992
Abstract :
PubMedSearch : Skretting_1992_Biochem.Biophys.Res.Commun_182_583
PubMedID: 1571050
Gene_locus related to this paper: human-LCAT

Title : Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met) - Klein_1992_J.Clin.Invest_89_499
Author(s) : Klein HG , Lohse P , Pritchard PH , Bojanovski D , Schmidt H , Brewer HB, Jr.
Ref : J Clinical Investigation , 89 :499 , 1992
Abstract :
PubMedSearch : Klein_1992_J.Clin.Invest_89_499
PubMedID: 1737840
Gene_locus related to this paper: human-LCAT

Title : The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families. - Skretting_1992_FEBS.Lett_309_307
Author(s) : Skretting G , Blomhoff JP , Solheim J , Prydz H
Ref : FEBS Letters , 309 :307 , 1992
Abstract :
PubMedSearch : Skretting_1992_FEBS.Lett_309_307
PubMedID: 1516702
Gene_locus related to this paper: human-LCAT

Title : A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity - Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855
Author(s) : Funke H , von Eckardstein A , Pritchard PH , Albers JJ , Kastelein JJ , Droste C , Assmann G
Ref : Proc Natl Acad Sci U S A , 88 :4855 , 1991
Abstract :
PubMedSearch : Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855
PubMedID: 2052566

Title : A 'Fish-eye disease' familial condition with massive corneal opacities and hypoalphalipoproteinaemia: clinical, biochemical and genetic features - Clerc_1991_Eur.J.Clin.Invest_21_616
Author(s) : Clerc M , Dumon MF , Sess D , Freneix-Clerc M , Mackness M , Conri C
Ref : European Journal of Clinical Investigation , 21 :616 , 1991
Abstract :
PubMedSearch : Clerc_1991_Eur.J.Clin.Invest_21_616
PubMedID: 1778223

Title : Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: a single nucleotide insertion in LCAT gene causes a complete deficient type of the disease - Bujo_1991_Biochem.Biophys.Res.Commun_181_933
Author(s) : Bujo H , Kusunoki J , Ogasawara M , Yamamoto T , Ohta Y , Shimada T , Saito Y , Yoshida S
Ref : Biochemical & Biophysical Research Communications , 181 :933 , 1991
Abstract :
PubMedSearch : Bujo_1991_Biochem.Biophys.Res.Commun_181_933
PubMedID: 1662503

Title : Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene - Maeda_1991_Biochem.Biophys.Res.Commun_178_460
Author(s) : Maeda E , Naka Y , Matozaki T , Sakuma M , Akanuma Y , Yoshino G , Kasuga M
Ref : Biochemical & Biophysical Research Communications , 178 :460 , 1991
Abstract :
PubMedSearch : Maeda_1991_Biochem.Biophys.Res.Commun_178_460
PubMedID: 1859405
Gene_locus related to this paper: human-LCAT

Title : Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency - Gotoda_1991_Lancet_338_778
Author(s) : Gotoda T , Yamada N , Murase T , Sakuma M , Murayama N , Shimano H , Kozaki K , Albers JJ , Yazaki Y , Akanuma Y
Ref : Lancet , 338 :778 , 1991
Abstract :
PubMedSearch : Gotoda_1991_Lancet_338_778
PubMedID: 1681161
Gene_locus related to this paper: human-LCAT

Title : Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele - Taramelli_1990_Hum.Genet_85_195
Author(s) : Taramelli R , Pontoglio M , Candiani G , Ottolenghi S , Dieplinger H , Catapano A , Albers J , Vergani C , McLean J
Ref : Hum Genet , 85 :195 , 1990
Abstract :
PubMedSearch : Taramelli_1990_Hum.Genet_85_195
PubMedID: 2370048
Gene_locus related to this paper: human-LCAT

Title : A new case of familial lecithin: cholesterol acyltransferase (LCAT) deficiency--paradoxical findings regarding LCAT mass and activity in 23 members of a family - Takata_1989_Jpn.J.Med_28_765
Author(s) : Takata K , Kajiyama G , Horiuchi I , Watanabe T , Tokumo H , Hirata Y
Ref : Jpn J Med , 28 :765 , 1989
Abstract :
PubMedSearch : Takata_1989_Jpn.J.Med_28_765
PubMedID: 2634146

Title : Different substrate specificities of plasma lecithin: cholesterol acyl transferase in fish eye disease and Tangier disease - Carlson_1987_Acta.Med.Scand_222_345
Author(s) : Carlson LA , Holmquist L , Assmann G
Ref : Acta Med Scand , 222 :345 , 1987
Abstract :
PubMedSearch : Carlson_1987_Acta.Med.Scand_222_345
PubMedID: 3425387

Title : Hypoalphalipoproteinemia resembling fish eye disease - Frohlich_1987_Acta.Med.Scand_221_291
Author(s) : Frohlich J , Hoag G , McLeod R , Hayden M , Godin DV , Wadsworth LD , Critchley JD , Pritchard PH
Ref : Acta Med Scand , 221 :291 , 1987
Abstract :
PubMedSearch : Frohlich_1987_Acta.Med.Scand_221_291
PubMedID: 3591467

Title : Alpha-lecithin:cholesterol acyltransferase deficiency. Lack of both phospholipase A2 and acyltransferase activities characteristic of high density lipoprotein lecithin:cholesterol acyltransferase in fish eye disease - Holmquist_1987_Acta.Med.Scand_222_23
Author(s) : Holmquist L , Carlson LA
Ref : Acta Med Scand , 222 :23 , 1987
Abstract :
PubMedSearch : Holmquist_1987_Acta.Med.Scand_222_23
PubMedID: 3630775
Gene_locus related to this paper: human-LCAT

Title : Inhibitory effect of normal high density lipoproteins on lecithin:cholesterol acyltransferase activity in fish eye disease plasma - Holmquist_1987_Acta.Med.Scand_222_15
Author(s) : Holmquist L , Carlson LA
Ref : Acta Med Scand , 222 :15 , 1987
Abstract :
PubMedSearch : Holmquist_1987_Acta.Med.Scand_222_15
PubMedID: 3630774
Gene_locus related to this paper: human-LCAT

Title : Evidence for deficiency of high density lipoprotein lecithin: cholesterol acyltransferase activity (alpha-LCAT) in fish eye disease - Carlson_1985_Acta.Med.Scand_218_189
Author(s) : Carlson LA , Holmquist L
Ref : Acta Med Scand , 218 :189 , 1985
Abstract :
PubMedSearch : Carlson_1985_Acta.Med.Scand_218_189
PubMedID: 4061122
Gene_locus related to this paper: human-LCAT

Title : Evidence for the presence in human plasma of lecithin: cholesterol acyltransferase activity (beta-LCAT) specifically esterifying free cholesterol of combined pre-beta- and beta-lipoproteins. Studies of fish eye disease patients and control subjects - Carlson_1985_Acta.Med.Scand_218_197
Author(s) : Carlson LA , Holmquist L
Ref : Acta Med Scand , 218 :197 , 1985
Abstract :
PubMedSearch : Carlson_1985_Acta.Med.Scand_218_197
PubMedID: 4061123
Gene_locus related to this paper: human-LCAT

Title : A new case of familial LCAT deficiency - Vergani_1983_Acta.Med.Scand_214_173
Author(s) : Vergani C , Catapano AL , Roma P , Giudici G
Ref : Acta Med Scand , 214 :173 , 1983
Abstract :
PubMedSearch : Vergani_1983_Acta.Med.Scand_214_173
PubMedID: 6624548

Title : Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency - Frohlich_1982_Am.J.Hum.Genet_34_65
Author(s) : Frohlich J , Hon K , McLeod R
Ref : American Journal of Human Genetics , 34 :65 , 1982
Abstract :
PubMedSearch : Frohlich_1982_Am.J.Hum.Genet_34_65
PubMedID: 6805319

Title : Renal failure in familial lecithin: cholesterol acyltransferase deficiency - Borysiewicz_1982_Q.J.Med_51_411
Author(s) : Borysiewicz LK , Soutar AK , Evans DJ , Thompson GR , Rees AJ
Ref : Q J Med , 51 :411 , 1982
Abstract :
PubMedSearch : Borysiewicz_1982_Q.J.Med_51_411
PubMedID: 7156322
Gene_locus related to this paper: human-LCAT

Title : Fish-eye disease. A new familial condition with massive corneal opacities and dyslipoproteinaemia - Carlson_1979_Lancet_2_922
Author(s) : Carlson LA , Philipson B
Ref : Lancet , 2 :922 , 1979
Abstract :
PubMedSearch : Carlson_1979_Lancet_2_922
PubMedID: 91022
Gene_locus related to this paper: human-LCAT

Title : Familial serum-cholesterol esterification failure. A new inborn error of metabolism -
Author(s) : Norum KR , Gjone E
Ref : Biochimica & Biophysica Acta , 144 :698 , 1967
PubMedID: 6078131