A novel dominant GJB2 (DFNA3) mutation in a Chinese family
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/srep34425.pdf
Reference17 articles.
1. Snoeckx, R. L. et al. GJB2 mutations and degree of hearing loss: a multicenter study. American journal of human genetics 77, 945–957, doi: 10.1086/497996 (2005).
2. Hilgert, N., Smith, R. J. & Van Camp, G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutation research 681, 189–196, doi: 10.1016/j.mrrev.2008.08.002 (2009).
3. Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in medicine: official journal of the American College of Medical Genetics 17, 405–424, doi: 10.1038/gim.2015.30 (2015).
4. Bazazzadegan, N. et al. Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss. American journal of medical genetics. Part A 155A, 1202–1211, doi: 10.1002/ajmg.a.33209 (2011).
5. Denoyelle, F., Lina-Granade, G. & Petit, C. Dfna3. Advances in oto-rhino-laryngology 61, 47–52 (2002).
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