S350C_human-LPL

General

Gene Locus : human-LPL

Mode of mutation : Natural mutant

Disease : Hyperlipoproteinemia TypeI

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 : S323C with the numbering of the publication. Probably an error. The other mutation refered in the paper S447X

References (1)

Title : [The application of end user computing (EUC) for detection of lipoprotein lipase gene abnormality] - Li_1999_Rinsho.Byori_47_737
Author(s) : Li J , Kobori K , Kondo A , Yonekawa O , Kanno T
Ref : Rinsho Byori , 47 :737 , 1999
Abstract : Li_1999_Rinsho.Byori_47_737
ESTHER : Li_1999_Rinsho.Byori_47_737
PubMedSearch : Li_1999_Rinsho.Byori_47_737
PubMedID: 10511805