Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family-Reference-Cited by-同舟云学术

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Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

Published:2013-05-14 Issue:5 Volume:8 Page:e63026
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Gao Xue,Su Yu,Guan Li-Ping,Yuan Yong-Yi,Huang Sha-Sha,Lu Yu,Wang Guo-Jian,Han Ming-Yu,Yu Fei,Song Yue-Shuai,Zhu Qing-Yan,Wu Jing,Dai Pu

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference32 articles.

1. Newborn hearing screening–a silent revolution;CC Morton;N Engl J Med,2006

2. Deafness in the genomics era;AE Shearer;Hear Res,2011

3. High-throughput sequencing to decipher the genetic heterogeneity of deafness;Z Brownstein;Genome Biol,2012

4. Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness;S Delmaghani;Hum Mol Genet,2012

5. Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss;Y Li;Am J Hum Genet,2010

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1. The M310T mutation in the GATA4 gene is a novel pathogenic target of the familial atrial septal defect;BMC Cardiovascular Disorders;2021-01-06

2. Distinct functions of TMC channels: a comparative overview;Cellular and Molecular Life Sciences;2019-10-04

3. Next-generation sequencing reveals a novel pathological mutation in the TMC1 gene causing autosomal recessive non-syndromic hearing loss in an Iranian kindred;International Journal of Pediatric Otorhinolaryngology;2019-09

4. Skewed X-chromosome inactivation and next-generation sequencing to identify a novel SMPX variants associated with X-linked hearing loss in a Chinese family;International Journal of Pediatric Otorhinolaryngology;2018-10

5. Identification of four TMC1 variations in different Chinese families with hereditary hearing loss;Molecular Genetics & Genomic Medicine;2018-04-14

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