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.1103G>T Exon 6 Phenotype (Unclassified)
| Title : Multiple rare alleles contribute to low plasma levels of HDL cholesterol - Cohen_2004_Science_305_869 |
| Author(s) : Cohen JC , Kiss RS , Pertsemlidis A , Marcel YL , McPherson R , Hobbs HH |
| Ref : Science , 305 :869 , 2004 |
| Abstract : Cohen_2004_Science_305_869 |
| ESTHER : Cohen_2004_Science_305_869 |
| PubMedSearch : Cohen_2004_Science_305_869 |
| PubMedID: 15297675 |