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 : Missense Homozygous p.His372Gln c.1116C>G Exon 12
| Title : Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration - Nishiguchi_2014_Ophthalmology_121_1620 |
| Author(s) : Nishiguchi KM , Avila-Fernandez A , van Huet RA , Corton M , Perez-Carro R , Martin-Garrido E , Lopez-Molina MI , Blanco-Kelly F , Hoefsloot LH , van Zelst-Stams WA , Garcia-Ruiz PJ , Del Val J , Di Gioia SA , Klevering BJ , van de Warrenburg BP , Vazquez C , Cremers FP , Garcia-Sandoval B , Hoyng CB , Collin RW , Rivolta C , Ayuso C |
| Ref : Ophthalmology , 121 :1620 , 2014 |
| Abstract : Nishiguchi_2014_Ophthalmology_121_1620 |
| ESTHER : Nishiguchi_2014_Ophthalmology_121_1620 |
| PubMedSearch : Nishiguchi_2014_Ophthalmology_121_1620 |
| PubMedID: 24697911 |
| Gene_locus related to this paper: human-ABHD12 |