A common molecular basis for three inherited kidney stone diseases.
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), a...
Prif Awduron: | Lloyd, SE, Pearce, S, Fisher, S, Steinmeyer, K, Schwappach, B, Scheinman, S, Harding, B, Bolino, A, Devoto, M, Goodyer, P, Rigden, S, Wrong, O, Jentsch, T, Craig, I, Thakker, R |
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Fformat: | Journal article |
Iaith: | English |
Cyhoeddwyd: |
1996
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Eitemau Tebyg
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HEREDITARY NEPHROLITHIASIS IS ASSOCIATED WITH MUTATIONS IN AN X-LINKED CHLORIDE CHANNEL GENE
gan: Lloyd, S, et al.
Cyhoeddwyd: (1995) -
Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.
gan: Lloyd, SE, et al.
Cyhoeddwyd: (1997) -
Mutations in the chloride channel gene (CLCN5) are associated with hypercalciuric rickets and nephrolithiasis.
gan: Lloyd, SE, et al.
Cyhoeddwyd: (1996) -
ROLE OF A VOLTAGE-GATED CHLORIDE-CHANNEL GENE CLC-5 IN HUMAN AND RAT HYPERCALCIURIA
gan: Scheinman, S, et al.
Cyhoeddwyd: (1995) -
MAPPING OF 2 HEREDITARY RENAL TUBULAR DISORDERS ASSOCIATED WITH KIDNEY-STONES, AND REFERRED TO AS DENT-DISEASE AND X-LINKED RECESSIVE NEPHROLITHIASIS, TO CHROMOSOME-XP11
gan: Thakker, R, et al.
Cyhoeddwyd: (1994)