Gene Locus : human-LIPE
Mode of mutation : Natural mutant
Disease : Lipodystrophy, familial partial, type 6
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.3103G>T p.(Glu1035*) Homozygous in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy, increased serum creatine kinase levels, hypertriglyceridemia and low levels of high-density lipoprotein cholesterol
| Title : Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy - Zolotov_2017_Am.J.Med.Genet.A_173_190 |
| Author(s) : Zolotov S , Xing C , Mahamid R , Shalata A , Sheikh-Ahmad M , Garg A |
| Ref : American Journal of Medicine Genet A , 173 :190 , 2017 |
| Abstract : |
| PubMedSearch : Zolotov_2017_Am.J.Med.Genet.A_173_190 |
| PubMedID: 27862896 |
| Gene_locus related to this paper: human-LIPE |