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Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families

Hereditary hearing impairment (HI) displays extensive genetic heterogeneity. To date, 67 autosomal recessive nonsyndromic hearing impairment (ARNSHI) loci have been mapped, and 24 genes have been identified. This report describes three large consanguineous ARNSHI Pakistani families, all of which dis...

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Bibliographic Details
Main Authors: Chishti, Muhammad S., Bhatti, Attya, Tamim, Sana, Lee, Kwanghyuk, McDonald, Merry-Lynn, Leal, Suzanne M., Ahmad, Wasim
Format: Artigo
Language:Inglês
Published: 2007
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2757049/
https://ncbi.nlm.nih.gov/pubmed/18084694
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10038-007-0209-3
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