Gene Locus : human-ABHD5
Mode of mutation : Natural mutant
Disease : Chanarin-Dorfman syndrome
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 : p.W138X Trp138Ter c.G413A c.413G>A. A Turkish girl patient with a homozygous mutation
| Title : Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl - Unlusoy Aksu_2015_Turk.J.Pediatr_57_300 |
| Author(s) : Unlusoy Aksu A , Sari S , Egritas Gurkan O , Dalgic B |
| Ref : Turk J Pediatr , 57 :300 , 2015 |
| Abstract : Unlusoy Aksu_2015_Turk.J.Pediatr_57_300 |
| ESTHER : Unlusoy Aksu_2015_Turk.J.Pediatr_57_300 |
| PubMedSearch : Unlusoy Aksu_2015_Turk.J.Pediatr_57_300 |
| PubMedID: 26701953 |
| Gene_locus related to this paper: human-ABHD5 |