Article
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
Human mutation - 1 Aug 2001
Masmoudi S, Antonarakis S E, Schwede T, Ghorbel A M, Gratri M, Pappasavas M P, Drira M, Elgaied-Boulila A, Wattenhofer M, Rossier C, Scott H S, Ayadi H, Guipponi M
Abstract excerpt
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 families segregating congenital autosomal recessive sensorineural deafness. The audiometric tests showed a loss of...
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