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Journal article

A common molecular basis for three inherited kidney stone diseases.

Abstract:

Kidney stones (nephrolithiasis), which affect 12% of males and 5% of females in the western world, are familial in 45% of patients and are most commonly associated with hypercalciuria. Three disorders of hypercalciuric nephrolithiasis (Dent's disease, X-linked recessive nephrolithiasis (XRN), and X-linked recessive hypophosphataemic rickets (XLRH)) have been mapped to Xp11.22 (refs 5-7). A microdeletion in one Dent's disease kindred allowed the identification of a candidate gene, CLCN5 (refs ...

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Publication status:
Published

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Publisher copy:
10.1038/379445a0

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
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Journal:
Nature
Volume:
379
Issue:
6564
Pages:
445-449
Publication date:
1996-02-01
DOI:
EISSN:
1476-4687
ISSN:
0028-0836
Source identifiers:
21415

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