ロード中...

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...

詳細記述

保存先:
書誌詳細
主要な著者: Woo, Hae-Mi, Park, Hong-Joon, Baek, Jeong-In, Park, Mi-Hyun, Kim, Un-Kyung, Sagong, Borum, Koo, Soo Kyung
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2013
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3727941/
https://ncbi.nlm.nih.gov/pubmed/23865914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-72
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!