Novel TMPRSS3 variants in Pakistani families with autosomal recessive nonsyndromic hearing impairment

Mutations in the TMPRSS3 gene are known to cause autosomal recessive nonsyndromic hearing impairment (ARNSHI). After undergoing a genome scan, ten consanguineous Pakistani families with ARNSHI were found to have significant or suggestive evidence of linkage to the TMPRSS3 region. In order to elucida...

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Hlavní autoři: Lee, Kwanghyuk, Khan, Saadullah, Islam, Adeel, Ansar, Muhammad, Andrade, Paula B., Kim, Stephanie, Santos-Cortez, Regie Lyn P., Ahmad, Wasim, Leal, Suzanne M.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3374056/
https://ncbi.nlm.nih.gov/pubmed/21534946
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2011.01695.x
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