DFNA9/COCH and its phenotype

Adv Otorhinolaryngol. 2002:61:66-72. doi: 10.1159/000066806.

Authors

Martijn H Kemperman¹, Steven J H Bom, François X Lemaire, Wim I M Verhagen, Patrick L M Huygen, Cor W R J Cremers

Affiliation

¹ Department of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The Netherlands. M.Kemperman@kno.azn.nl

PMID: 12408065
DOI: 10.1159/000066806

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Auditory Threshold
Cochlea / metabolism
Cochlea / pathology
Deafness / genetics*
Disease Progression
Ear, Inner / pathology
Extracellular Matrix Proteins
Gene Expression
Hearing Loss, High-Frequency / genetics
Hearing Loss, Sensorineural / complications
Hearing Loss, Sensorineural / diagnosis
Hearing Loss, Sensorineural / genetics*
Hearing Loss, Sensorineural / pathology
Humans
Mutation, Missense
Phenotype*
Proteins / genetics*
Vestibular Diseases / complications
Vestibular Diseases / genetics

Substances

COCH protein, human
Extracellular Matrix Proteins
Proteins