Article
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
Human mutation - 1 Mar 2008
Otto Edgar A, Helou Juliana, Allen Susan J, O'Toole John F, Wise Eric L, Ashraf Shazia, Attanasio Massimo, Zhou Weibin, Wolf Matthias T F, Hildebrandt Friedhelm
Abstract excerpt
Nephronophthisis (NPHP), an autosomal recessive kidney disease, is the most frequent genetic cause of chronic renal failure in the first three decades of life. Mutations in eight genes (NPHP1-8) have been identified. We here describe a combined approach for mutation screening of NPHP1, NPHP2, NPHP3, NPHP4, and NPHP5 in a worldwide cohort of 470 unrelated patients with NPHP. First, homozygous NPHP1 deletions were...
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