Journal article
Clinical application of genetic testing for deafness
American journal of medical genetics. Part A, Vol.130A(1), pp.8-12
09/15/2004
DOI: 10.1002/ajmg.a.30053
PMID: 15368487
Abstract
Advances in the molecular biology of hearing and deafness have identified many genes essential for normal auditory function. Allele variants of these genes cause nonsyndromic deafness, making mutation screening a valuable test to unequivocally diagnose many different forms of inherited deafness. In this study, genetic testing of GJB2, SLC26A4 and WFS1 is reviewed.
Details
- Title: Subtitle
- Clinical application of genetic testing for deafness
- Creators
- Richard J H Smith - Interdepartmental Genetics Program and Department of Otolaryngology, University of Iowa, Iowa City, Iowa 52242, USA. richard-smith@uiowa.edu
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.130A(1), pp.8-12
- DOI
- 10.1002/ajmg.a.30053
- PMID
- 15368487
- NLM abbreviation
- Am J Med Genet A
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Publisher
- United States
- Grant note
- DC02842 / NIDCD NIH HHS DC03544 / NIDCD NIH HHS
- Language
- English
- Date published
- 09/15/2004
- 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
- 9984006438902771
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