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 : g.8113_8114insLINE c.506ins101 insertion of a 101 bp LINE element into intron 3 at position IVS3+8113 of the ABHD5 gene, leading to aberrant splicing out of the mutant intron 3. Two potent acceptor and donor splice sites at the beginning and at the end of the 101-bp insertion sequence
| Title : An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family - Samuelov_2011_Br.J.Dermatol_164_1390 |
| Author(s) : Samuelov L , Fuchs-Telem D , Sarig O , Sprecher E |
| Ref : Br J Dermatol , 164 :1390 , 2011 |
| Abstract : Samuelov_2011_Br.J.Dermatol_164_1390 |
| ESTHER : Samuelov_2011_Br.J.Dermatol_164_1390 |
| PubMedSearch : Samuelov_2011_Br.J.Dermatol_164_1390 |
| PubMedID: 21332462 |
| Gene_locus related to this paper: human-ABHD5 |