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Bartter syndrome in two sisters with a novel mutation of theCLCNKBgene, one with deafness

✍ Scribed by Pierre Robitaille; Aicha Merouani; Ning He; York Pei


Publisher
Springer
Year
2011
Tongue
English
Weight
164 KB
Volume
170
Category
Article
ISSN
0340-6997

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Novel missense mutations of TMPRSS3 in t
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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