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Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness

โœ Scribed by S. Masmoudi; S.E. Antonarakis; T. Schwede; A.M. Ghorbel; M. Grati; M.-P. Pappasavas; M. Drira; A. Elgaied-Boulila; M. Wattenhofer; C. Rossier; H.S. Scott; H. Ayadi; M. Guipponi

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
75 KB
Volume
19
Category
Article
ISSN
1059-7794

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Novel missense mutations of TMPRSS3 in t
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness
โœ Saber Masmoudi; Stylianos E. Antonarakis; Torsten Schwede; Abdel Monem Ghorbel; ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 575 KB

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

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Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss
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## Communicated by Henrik Dahl Approximately 80% of hereditary hearing loss is non-syndromic. Non-syndromic deafness is the most genetically heterogeneous trait. The most common and severe form of hereditary hearing impairment is autosomal recessive non-syndromic hearing loss (ARNSHL), accounting f