Molecular Basis of DFNB73: Mutations of BSND Can Cause Nonsyndromic Deafness or Bartter Syndrome

BSND encodes barttin, an accessory subunit of renal and inner ear chloride channels. To date, all mutations of BSND have been shown to cause Bartter syndrome type IV, characterized by significant renal abnormalities and deafness. We identified a BSND mutation (p.I12T) in four kindreds segregating no...

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Huvudupphovsmän: Riazuddin, Saima, Anwar, Saima, Fischer, Martin, Ahmed, Zubair M., Khan, Shahid Y., Janssen, Audrey G.H., Zafar, Ahmad U., Scholl, Ute, Husnain, Tayyab, Belyantseva, Inna A., Friedman, Penelope L., Riazuddin, Sheikh, Friedman, Thomas B., Fahlke, Christoph
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2009
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Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2725234/
https://ncbi.nlm.nih.gov/pubmed/19646679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.07.003
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