title: Identification of three novel mutations in the MYO7A gene.
abstract: Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved in the Usher syndrome Ib phenotype.
authors.affiliation: Departament de Genética, Universitat de València, València, Spain.
authors.forename: J M
authors.initials: JM
authors.lastname: Cuevas
authors.forename: C
authors.initials: C
authors.lastname: Espinós
authors.forename: J M
authors.initials: JM
authors.lastname: Millán
authors.forename: F
authors.initials: F
authors.lastname: Sánchez
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.forename: M
authors.initials: M
authors.lastname: Beneyto
authors.forename: C
authors.initials: C
authors.lastname: Nájera
mesh_terms: D001483:Base Sequence; D002880:Chromosomes, Human, Pair 11; D004398:Dyneins; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D000081412:Myosin VIIa; D009218:Myosins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome
chemical_list: C000631455:MYO7A protein, human; D000081412:Myosin VIIa; D009218:Myosins; D004398:Dyneins