Gene Locus : human-LCAT
Mode of mutation : Natural mutant
Disease : Lecithin-cholesterol acyltransferase deficiency (LCATD) and fish-eye disease (FED)
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
c.488-489del Exon 4 Phenotype (LCATD)
| Title : Classical LCAT deficiency resulting from a novel homozygous dinucleotide deletion in exon 4 of the human lecithin: cholesterol acyltransferase gene causing a frameshift and stop codon at residue 144 - Teh_1999_Atherosclerosis_146_141 |
| Author(s) : Teh EM , Chisholm JW , Dolphin PJ , Pouliquen Y , Savoldelli M , De Gennes JL , Benlian P |
| Ref : Atherosclerosis , 146 :141 , 1999 |
| Abstract : |
| PubMedSearch : Teh_1999_Atherosclerosis_146_141 |
| PubMedID: 10487497 |