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 :
g.2327T>C (IVS4:T-22C). cause a null allele as the result of complete intron retention.
Title : An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease) - Kuivenhoven_1996_J.Clin.Invest_98_358 |
Author(s) : Kuivenhoven JA , Weibusch H , Pritchard PH , Funke H , Benne R , Assmann G , Kastelein JJ |
Ref : J Clinical Investigation , 98 :358 , 1996 |
Abstract : Kuivenhoven_1996_J.Clin.Invest_98_358 |
ESTHER : Kuivenhoven_1996_J.Clin.Invest_98_358 |
PubMedSearch : Kuivenhoven_1996_J.Clin.Invest_98_358 |
PubMedID: 8755645 |