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Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
Hum Mutat ; 35(5): 565-70, 2014 May.
Article in En | MEDLINE | ID: mdl-24616153

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myosin Heavy Chains / Genetic Predisposition to Disease / Mutation, Missense / Myosin Type I / Hearing Loss, Sensorineural Type of study: Etiology_studies Limits: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Middle aged Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2014 Type: Article Affiliation country: Germany

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myosin Heavy Chains / Genetic Predisposition to Disease / Mutation, Missense / Myosin Type I / Hearing Loss, Sensorineural Type of study: Etiology_studies Limits: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Middle aged Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2014 Type: Article Affiliation country: Germany