Journal article icon

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 ...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1038/379445a0

Authors


Pearce, SH More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Steinmeyer, K More by this author
Schwappach, B More by this author
Expand authors...
Journal:
Nature
Volume:
379
Issue:
6564
Pages:
445-449
Publication date:
1996-02-05
DOI:
EISSN:
1476-4687
ISSN:
0028-0836
URN:
uuid:53c7ff7c-6cb3-4204-be2a-db9f34918a36
Source identifiers:
21415
Local pid:
pubs:21415

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP