Article
Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.
Kidney international - 1 Jul 1999
Torra R, Viribay M, Tellería D, Badenas C, Watson M, Harris P, Darnell A, San Millán J L
Abstract excerpt
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is genetically heterogeneous, with at least three chromosomal loci accounting for the disease. Mutations in the PKD2 gene on the long arm of chromosome 4 are expected to be responsible for approximately 15% of cases of ADPKD. METHODS: We report a systematic screening for mutations covering the 15 exons of the PKD2 gene in eight unrelated families...
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