Genetic association of MYH genes with hereditary hearing loss in Korea
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- 作者：Sang-Joo Kima ; b ; 1 ; Seokwon Leea ; b ; 1 ; Hong-Joon Parkc ; 1 ; Tae-Hun Kanga ; b ; Borum Sagonga ; Jeong-In Baekd ; Se-Kyung Ohe ; Jae Young Choif ; Kyu-Yup Leeg ; kylee@knu.ac.kr" class="auth_mail" title="E-mail the corresponding author ; Un-Kyung Kima ; b ; kimuk@knu.ac.kr" class="auth_mail" title="E-mail the corresponding author
- 关键词：NMMHC II-A ; Non-muscle myosin heavy chain IIA ; NMMHC II-C ; Non-muscle myosin heavy chain IIC ; ADNSHL ; Autosomal dominant non-syndromic hearing loss ; MYH9 ; Myosin ; heavy chain 9 ; non-muscle ; MHA ; May-Hegglin anomaly ; FTNS ; Fechtner syndrome ; SBS ; Sebastian syndrome ; EPS ; Epstein syndrome ; APS ; Alport syndrome ; MYH14 ; Myosin ; heavy chain 14 ; non-muscle ; DFNA ; Nonsyndromic deafness ; autosomal dominant ; PTA ; Pure-tone audiometry ; IRB ; The Institutional Review Board ; PCR ; Polymerase chain reaction ; R
- 刊名：Gene
- 出版年：2016
- 出版时间：10 October 2016
- 年：2016
- 卷：591
- 期：1
- 页码：177-182
- 全文大小：787 K
文摘
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We performed genetic analysis of MYH genes in Korean patients with ADNSHL.
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We found three and one possibly pathogenic variants in MYH9 and MYH14, respectively.
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Our research will improve understanding of relations between MYH genes and ADNSHL.