Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family
Author:
Publisher
Elsevier BV
Subject
Otorhinolaryngology,General Medicine,Pediatrics, Perinatology and Child Health
Reference23 articles.
1. Genetic epidemiology of hearing impairment;Morton;Ann. N. Y. Acad. Sci.,1991
2. Guy Van Camp R.J.S., The Hereditary Hearing loss Homepage. City
3. A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects;de Kok;Hum. Mol. Genet.,1999
4. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction
5. Identification of the protein product of the Coch gene (hereditary deafness gene) as the major component of bovine inner ear protein;Ikezono;Biochim. Biophys. Acta,2001
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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. On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice;Hearing Research;2021-03
3. Attitudes of Potential Participants Towards Potential Gene Therapy Trials in Autosomal Dominant Progressive Sensorineural Hearing Loss;Otology & Neurotology;2020-12-08
4. Making the Case for Research on Disease-Modifying Treatments to Tackle Post-lingual Progressive Sensorineural Hearing Loss;Frontiers in Neurology;2020-04-21
5. Audiovestibular Phenotypes and Advanced Magnetic Resonance Imaging Features of Cochlin Gene Mutation Carriers;Audiology and Neurotology;2019
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