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Clinical application of genetic testing for deafness
Author(s) -
Smith Richard J.H.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30053
Subject(s) - genetic testing , genetics , allele , mutation , biology , gene , hearing loss , computational biology , audiology , medicine
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. © 2004 Wiley‐Liss, Inc.
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