Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing

BACKGROUND: Patient genetic heterogeneity renders it difficult to discover disease-cause genes. Whole-exome sequencing is a powerful new strategy that can be used to this end. The purpose of the present study was to identify a hitherto unknown mutation causing autosomal recessive nonsyndromic hearin...

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Hauptverfasser: Woo, Hae-Mi, Park, Hong-Joon, Park, Mi-Hyun, Kim, Bo-Young, Shin, Joong-Wook, Yoo, Won Gi, Koo, Soo Kyung
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2014
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4036425/
https://ncbi.nlm.nih.gov/pubmed/24767429
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-46
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