Homozygosity for the V37I GJB2 Mutation in Fifteen Probands with Mild to Moderate Sensorineural Hearing Impairment: Further Confirmation of Pathogenicity and Haplotype Analysis in Asian Populations

Hearing impairment affects 1 in 650 newborns, making it the most common congenital sensory impairment. Autosomal recessive nonsyndromic sensorineural hearing impairment (ARNSHI) comprises 80% of familial hearing impairment cases. Mutations in GJB2 account for a significant number of ARNSHI (and up t...

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Bibliografische gegevens
Hoofdauteurs: Gallant, Emily, Francey, Lauren, Tsai, Ellen A., Berman, Micah, Zhao, Yaru, Fetting, Heather, Kaur, Maninder, Deardorff, Matthew A., Wilkens, Alisha, Clark, Dinah, Hakonarson, Hakon, Rehm, Heidi, Krantz, Ian D.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2013
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3745519/
https://ncbi.nlm.nih.gov/pubmed/23873582
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36042
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