Tuesday, 04 February 2014 08:05


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Seoul Korea, Tues., February 20, 2011 – A sequence analysis of the BSND gene showed that the affected males were homozygous for a missense G47R mutation in exon 1 of BSND. These findings suggest that the G47R mutation results in a dramatic decrease in barttin expression, which appears to be related to the location of ClC-K being changed from the basement membrane to the cytoplasm in the tubule an migh thave varying effects on the renal function associated with factors other than this gene.

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