Gene Locus : human-LIPE
Mode of mutation : Natural mutant
Disease :
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 :
Patient B was compound heterozygous for two frameshift variants: c.1890_1891del\; p.(Leu631Glyfs*57) L631GfsX57, and c.2077del\; p.(Arg693Valfs*76) R693VfsX76
| Title : LIPE-related lipodystrophic syndrome: clinical characteristics and disease modelling using adipose stem cells - Sollier_2020_Eur.J.Endocrinol_184_155 |
| Author(s) : Sollier C , Capel E , Aguilhon C , Smirnov V , Auclair M , Douillard C , Ladsous M , Defoort-Dhellemmes S , Gorwood J , Braud L , Motterlini R , Vatier C , Lascols O , Renard E , Vigouroux C , Jeru I |
| Ref : European Journal of Endocrinology , 184 :155 , 2021 |
| Abstract : |
| PubMedSearch : Sollier_2020_Eur.J.Endocrinol_184_155 |
| PubMedID: 33112291 |
| Gene_locus related to this paper: human-LIPE |