A Novel Mutation in COCH – Implications for Genotype-Phenotype Correlations in DFNA9 Hearing Loss

Michael S Hildebrand; Luke Gandolfo; A. Eliot Shearer; Jennifer A Webster; Maren Jensen; William J Kimberling; Dietrich Stephan; Patrick L.M Huygen; Richard J.H Smith; Melanie Bahlo

doi:10.1002/lary.21159

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A Novel Mutation in COCH – Implications for Genotype-Phenotype Correlations in DFNA9 Hearing Loss

Journal article

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Peer reviewed

A Novel Mutation in COCH – Implications for Genotype-Phenotype Correlations in DFNA9 Hearing Loss

Michael S Hildebrand, Luke Gandolfo, A. Eliot Shearer, Jennifer A Webster, Maren Jensen, William J Kimberling, Dietrich Stephan, Patrick L.M Huygen, Richard J.H Smith and Melanie Bahlo

The Laryngoscope, Vol.120(12), pp.2489-2493

12/2010

DOI: 10.1002/lary.21159

PMCID: PMC3329724

PMID: 21046548

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Abstract

Comparative study | no abstract available

vestibular dysfunction

COCH gene

DFNA9

hearing loss

missense mutation

Details

Title: Subtitle: A Novel Mutation in COCH – Implications for Genotype-Phenotype Correlations in DFNA9 Hearing Loss
Creators: Michael S Hildebrand - Department of Otolaryngology - Head and Neck Surgery, University of Iowa, Iowa City, IA, USA
Luke Gandolfo - Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia
A. Eliot Shearer - Department of Otolaryngology - Head and Neck Surgery, University of Iowa, Iowa City, IA, USA
Jennifer A Webster - Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA
Maren Jensen - Department of Genetics, Boys Town National Research Hospital, Omaha, NE, USA
William J Kimberling - Department of Genetics, Boys Town National Research Hospital, Omaha, NE, USA
Dietrich Stephan - Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA
Patrick L.M Huygen - Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
Richard J.H Smith - Department of Otolaryngology - Head and Neck Surgery, University of Iowa, Iowa City, IA, USA
Melanie Bahlo - Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia
Resource Type: Journal article
Publication Details: The Laryngoscope, Vol.120(12), pp.2489-2493
DOI: 10.1002/lary.21159
PMID: 21046548
PMCID: PMC3329724
NLM abbreviation: Laryngoscope
ISSN: 0023-852X
eISSN: 1531-4995
Grant note: R01 DC003544-14 || DC / National Institute on Deafness and Other Communication Disorders : NIDCD
Language: English
Date published: 12/2010
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984006454102771

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