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 :
c.506-3C>G Intron 3 splice site A 18-month-old boy with ichthyosis and hepatomegaly
| Title : Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5\/CGI-58 gene - Srinivasaraghavan_2014_Pediatr.Dermatol_31_612 |
| Author(s) : Srinivasaraghavan R , Krishnamurthy S , Chandar R , Cassandrini D , Mahadevan S , Bruno C , Santorelli FM |
| Ref : Pediatr Dermatol , 31 :612 , 2014 |
| Abstract : |
| PubMedSearch : Srinivasaraghavan_2014_Pediatr.Dermatol_31_612 |
| PubMedID: 23756328 |
| Gene_locus related to this paper: human-ABHD5 |