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Article

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

BMC medical genetics - 28 Apr 2014

Woo Hae-Mi, Park Hong-Joon, Park Mi-Hyun, Kim Bo-Young, Shin Joong-Wook, Yoo Won Gi, Koo Soo Kyung

Abstract excerpt

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 hearing loss (ARNSHL) in Korean families. METHODS: We performed whole-exome sequencing in 16 individuals from 13 unrelated...

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Source

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Identifiers

PMID: 24767429
DOI: 10.1186/1471-2350-15-46
PMCID: PMC4036425

Genes

CDH23

Variants

Provenance

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