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Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

BACKGROUND: The genetic heterogeneity of hearing loss makes genetic diagnosis expensive and time consuming using available methods. Whole-exome sequencing has recently been introduced as an alternative approach to identifying causative mutations in Mendelian disorders. METHODS: To identify the hidde...

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Detalles Bibliográficos
Autores principales: Woo, Hae-Mi, Park, Hong-Joon, Baek, Jeong-In, Park, Mi-Hyun, Kim, Un-Kyung, Sagong, Borum, Koo, Soo Kyung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3727941/
https://www.ncbi.nlm.nih.gov/pubmed/23865914
http://dx.doi.org/10.1186/1471-2350-14-72

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