- 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...
Expand abstract - Publication status:
- Published
- 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
- Copyright date:
- 1994
Journal article
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).
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