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Genetics of hypercalciuric nephrolithiasis: renal stone disease.

Abstract:

Renal stone disease (nephrolithiasis) affects 5% of adults and is often associated with hypercalciuria. Hypercalciuric nephrolithiasis is a familial disorder in more than 35% of patients, and may occur as a monogenic disorder, or as a polygenic trait involving 3 to 5 susceptibility loci in man and rat, respectively. Studies of monogenic forms of hypercalciuric nephrolithiasis in man, for example, Bartter syndrome, Dent's disease, autosomal dominant hypocalcemic hypercalciuria (ADHH), hypercal...

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Publication status:
Published

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Publisher copy:
10.1196/annals.1402.030

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Role:
Author
Volume:
1116
Issue:
1
Pages:
461-484
Publication date:
2007-11-05
DOI:
EISSN:
1749-6632
ISSN:
0077-8923
URN:
uuid:2c621ae9-e818-47f1-9dfa-432db056f4ea
Source identifiers:
19944
Local pid:
pubs:19944
ISBN:
978-1-57331-684-2

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