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 :
p.Tyr83X c.249C>G, NM_015600: two members Hunan family of Chinese descent clinically diagnosed with USH3 showed hearing, visual acuity, and olfactory decline, but no ataxia or polyneuropathy.
| Title : A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review - Li_2019_Gene_704_113 |
| Author(s) : Li T , Feng Y , Liu Y , He C , Liu J , Chen H , Deng Y , Li M , Li W , Song J , Niu Z , Sang S , Wen J , Men M , Chen X , Li J , Liu X , Ling J |
| Ref : Gene , 704 :113 , 2019 |
| Abstract : |
| PubMedSearch : Li_2019_Gene_704_113 |
| PubMedID: 30974196 |
| Gene_locus related to this paper: human-ABHD12 |