Article
Evidence of oligogenic inheritance in nephronophthisis.
Journal of the American Society of Nephrology : JASN - 1 Oct 2007
Hoefele Julia, Wolf Matthias T F, O'Toole John F, Otto Edgar A, Schultheiss Ulla, Dêschenes Georges, Attanasio Massimo, Utsch Boris, Antignac Corinne, Hildebrandt Friedhelm
Abstract excerpt
Nephronophthisis is a recessive cystic renal disease that leads to end-stage renal failure in the first two decades of life. Twenty-five percent of nephronophthisis cases are caused by large homozygous deletions of NPHP1, but six genes responsible for nephronophthisis have been identified. Becaus...
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