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Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis).

Abstract:

Dent's disease, an X-linked renal tubular disorder, is a form of Fanconi syndrome which is characterized by proteinuria, hypercalciuria, nephrocalcinosis, kidney stones and renal failure. Previous studies localised the gene responsible to Xp11.22, within a microdeletion involving the hypervariable locus DXS255. Further analysis using new probes which flank this locus indicate that the deletion is less than 515 kb. A 185 kb YAC containing DXS255 was used to screen a cDNA library from adult kid...

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Publication status:
Published

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Role:
Author
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Journal:
Human molecular genetics
Volume:
3
Issue:
11
Pages:
2053-2059
Publication date:
1994-11-05
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:aaa2b7d5-abe1-4ed4-a2f3-8465abdc0dd2
Source identifiers:
26474
Local pid:
pubs:26474

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