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.C99X pCys99Ter c.297C> A homozygous patient with scaly skin lesions since birth, gradually progressing abdominal distention since one and half years of age and delayed motor development
| Title : Chanarin Dorfman syndrome: a case report with novel nonsense mutation - Gupta_2016_Gene_575_359 |
| Author(s) : Gupta N , Gothwal S , Satpathy AK , Missaglia S , Tavian D , Das P , Timila D , Kabra M |
| Ref : Gene , 575 :359 , 2016 |
| Abstract : |
| PubMedSearch : Gupta_2016_Gene_575_359 |
| PubMedID: 26353074 |
| Gene_locus related to this paper: human-ABHD5 |