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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...
Autores principales: | Woo, Hae-Mi, Park, Hong-Joon, Baek, Jeong-In, Park, Mi-Hyun, Kim, Un-Kyung, Sagong, Borum, Koo, Soo Kyung |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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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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