Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

Edgar A. Otto, Juliana Helou, Susan J. Allen, John F. O'Toole, Eric L. Wise, Shazia Ashraf, Massimo Attanasio, Weibin Zhou, Matthias T F Wolf, Friedhelm Hildebrandt

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