Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy
โ Scribed by R. Amouri; A. Driss; K. Murayama; M. Kefi; I Nishino; F. Hentati
- Book ID
- 116792300
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 132 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0960-8966
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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