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. Gln279ArgfsX14 chr3:43759225delA c.836delA Family ED129 with Chanarin-Dorfman syndrome
| Title : Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families - Shah_2017_Int.J.Dermatol_56_1406 |
| Author(s) : Shah K , Mehmood S , Jan A , Abbe I , Hussain Ali R , Khan A , Chishti MS , Lee K , Ahmad F , Ansar M , Shahzad S , Nickerson DA , Bamshad MJ , Coucke PJ , Santos-Cortez RLP , Spritz RA , Leal SM , Ahmad W |
| Ref : Int J Dermatol , 56 :1406 , 2017 |
| Abstract : Shah_2017_Int.J.Dermatol_56_1406 |
| ESTHER : Shah_2017_Int.J.Dermatol_56_1406 |
| PubMedSearch : Shah_2017_Int.J.Dermatol_56_1406 |
| PubMedID: 29130490 |
| Gene_locus related to this paper: human-ABHD5 |