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.604insA Exon 5 Phenotype (LCATD)
| Title : A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency - Bender_2007_Clin.Chem.Lab.Med_45_483 |
| Author(s) : Bender BU , Quaschning T , Neumann HP , Schmidt D , Kraemer-Guth A |
| Ref : Clinical Chemistry & Laboratory Medicine , 45 :483 , 2007 |
| Abstract : Bender_2007_Clin.Chem.Lab.Med_45_483 |
| ESTHER : Bender_2007_Clin.Chem.Lab.Med_45_483 |
| PubMedSearch : Bender_2007_Clin.Chem.Lab.Med_45_483 |
| PubMedID: 17439325 |