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 :
A patient had compound heterozygous mutations in the LIPE gene: c.2497_250ldel (p.Glu833LysfsTer22) and c.2705del (p.Ser902ThrfsTer27)
| Title : Case report: First Chinese patient with family partial lipodystrophy type 6 due to novel compound heterozygous mutations in the LIPE gene - Zhou_2024_Front.Genet_15_1417613 |
| Author(s) : Zhou Y , Zhang L , Ding Y , Zhai Y |
| Ref : Front Genet , 15 :1417613 , 2024 |
| Abstract : |
| PubMedSearch : Zhou_2024_Front.Genet_15_1417613 |
| PubMedID: 39113684 |
| Gene_locus related to this paper: human-LIPE |