Article
Analysis of the NPHP genes in two Japanese patients with suspected sporadic juvenile or adolescent nephronophthisis.
Clinical nephrology - 1 May 2006
Komatsuda A, Masai R, Wakui H, Iwamoto K, Aiba N, Ohtani H, Satoh K, Haseyama T, Imai H, Nakamoto Y, Sawada K
Abstract excerpt
BACKGROUND: Mutations in 3 genes (NPHP1, NPHP3 and NPHP4) have been identified in patients with juvenile or adolescent nephronophthisis (NPHP) without extrarenal involvement, mainly in patients from western countries. In this study, we analyzed mutations in the NPHP genes of 2 Japanese patients with suspected sporadic juvenile or adolescent NPHP without extrarenal involvement. METHODS: A renal biopsy was...
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