The Trp117Arg mutation of theCOCHgene causes deafness in Koreans
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01362.x/fullpdf
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2. The responsible genes in Japanese deafness patients and clinical application using Invader assay;Usami;Acta Otolaryngol,2008
3. Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease;Usami;Eur J Hum Genet,2003
4. Strategies for multilocus linkage analysis in humans;Lathrop;Proc Natl Acad Sci the U S A,1984
5. A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13;Manolis;Hum Mol Genet,1996
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1. Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis;Biomolecules;2022-01-27
2. Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9;PLOS ONE;2017-01-18
3. Detailed Hearing and Vestibular Profiles in the Patients with COCH Mutations;Annals of Otology, Rhinology & Laryngology;2015-03-16
4. Identification of Pathogenic Mechanisms ofCOCHMutations, Abolished Cochlin Secretion, and Intracellular Aggregate Formation: Genotype-Phenotype Correlations in DFNA9 Deafness and Vestibular Disorder;Human Mutation;2014-11-24
5. Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families;Orphanet Journal of Rare Diseases;2012-09-03
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