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.177del Exon 2 Phenotype (LCATD)
| 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 |
| Author(s) : Baass A , Wassef H , Tremblay M , Bernier L , Dufour R , Davignon J |
| Ref : Atherosclerosis , 207 :452 , 2009 |
| Abstract : Baass_2009_Atherosclerosis_207_452 |
| ESTHER : Baass_2009_Atherosclerosis_207_452 |
| PubMedSearch : Baass_2009_Atherosclerosis_207_452 |
| PubMedID: 19515369 |