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.285-286del Exon 2 Phenotype (Unclassified)
| Title : Molecular diagnosis of lecithin: cholesterol acyltransferase deficiency in a presymptomatic proband - Cirera_1998_Clin.Chem.Lab.Med_36_443 |
| Author(s) : Cirera S , Julve J , Ferrer I , Mainou C , Bonet R , Martin-Campos JM , Gonzalez-Sastre F , Blanco-Vaca F |
| Ref : Clinical Chemistry & Laboratory Medicine , 36 :443 , 1998 |
| Abstract : Cirera_1998_Clin.Chem.Lab.Med_36_443 |
| ESTHER : Cirera_1998_Clin.Chem.Lab.Med_36_443 |
| PubMedSearch : Cirera_1998_Clin.Chem.Lab.Med_36_443 |
| PubMedID: 9746267 |