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 : G95R Exon 3 G119R including signal peptide
| Title : A novel homozygous mutation causing lecithin-cholesterol acyltransferase deficiency in a proband of Romanian origin with a record of extreme gestational hyperlipidemia - Rial-Crestelo_2017_J.Clin.Lipidol_11_1475 |
| Author(s) : Rial-Crestelo D , Santos-Recuero I , Julve J , Blanco-Vaca F , Torralba M |
| Ref : J Clin Lipidol , 11 :1475 , 2017 |
| Abstract : Rial-Crestelo_2017_J.Clin.Lipidol_11_1475 |
| ESTHER : Rial-Crestelo_2017_J.Clin.Lipidol_11_1475 |
| PubMedSearch : Rial-Crestelo_2017_J.Clin.Lipidol_11_1475 |
| PubMedID: 28942093 |
| Gene_locus related to this paper: human-LCAT |