Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment
โ Scribed by K Lee; S Khan; A Islam; M Ansar; P B Andrade; S Kim; R L P Santos-Cortez; W Ahmad; S M Leal
- Book ID
- 115091955
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 896 KB
- Volume
- 82
- Category
- Article
- ISSN
- 0009-9163
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Though many hearing impairment genes have been identified, only a few of these genes have been screened in population studies. For this study, 168 Pakistani families with autosomal recessive hearing impairment not due to mutations in the GJB2 (Cx26) gene underwent a genome scan. Two-point and multip
Recently the TMPRSS3 gene, which encodes a transmembrane serine protease, was found to be responsible for two non-syndromic recessive deafness loci located on human chromosome 21q22.3, DFNB8 and DFNB10. We found evidence for linkage to the DFNB8/10 locus in two unrelated consanguineous Tunisian fami