Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families
โ Scribed by M Hashemzadeh Chaleshtori; MA Simpson; E Farrokhi; M Dolati; L Hoghooghi Rad; S Amani Geshnigani; AH Crosby
- Book ID
- 110888447
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 220 KB
- Volume
- 72
- Category
- Article
- ISSN
- 0009-9163
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๐ SIMILAR VOLUMES
Hereditary hearing loss (HHL) is an extremely common disorder. About 70% of HHL is non-syndromic, with autosomal recessive forms accounting for ~ 85% of the genetic load. Although very heterogeneous, the most common cause of HHL in many different world populations is mutations of GJB2, a gene that e
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