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