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).

Eitemau Tebyg

• HEREDITARY NEPHROLITHIASIS IS ASSOCIATED WITH MUTATIONS IN AN X-LINKED CHLORIDE CHANNEL GENE
  gan: Lloyd, S, et al.
  Cyhoeddwyd: (1995)
• Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis).
  gan: Fisher, 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)
• Mutations in the chloride channel gene (CLCN5) are associated with hypercalciuric rickets and nephrolithiasis.
  gan: Lloyd, SE, et al.
  Cyhoeddwyd: (1996)
• Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis.
  gan: Thakker, R
  Cyhoeddwyd: (2000)