Gene Locus : human-ABHD12
Mode of mutation : Natural mutant
Disease : PHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
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 :
a splice site mutation splice site of intron 2 c.316+2T>A
| Title : Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness - Yoshimura_2015_Ann.Otol.Rhinol.Laryngol_124 Suppl 1_77S |
| Author(s) : Yoshimura H , Hashimoto T , Murata T , Fukushima K , Sugaya A , Nishio SY , Usami S |
| Ref : Ann Otol Rhinol Laryngol , 124 Suppl 1 :77S , 2015 |
| Abstract : Yoshimura_2015_Ann.Otol.Rhinol.Laryngol_124 Suppl 1_77S |
| ESTHER : Yoshimura_2015_Ann.Otol.Rhinol.Laryngol_124 Suppl 1_77S |
| PubMedSearch : Yoshimura_2015_Ann.Otol.Rhinol.Laryngol_124 Suppl 1_77S |
| PubMedID: 25743180 |
| Gene_locus related to this paper: human-ABHD12 |