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 :
View Abstract
PubMedSearch : Nishiguchi_2014_Ophthalmology_121_1620
PubMedID : 24697911
Gene_locus related to this paper:
human-ABHD12