Article
Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie.
Kidney international - 1 Jan 1997
Hildebrandt F, Strahm B, Nothwang H G, Gretz N, Schnieders B, Singh-Sawhney I, Kutt R, Vollmer M, Brandis M
Abstract excerpt
Familial juvenile nephronophthisis (NPH), an autosomal recessive cystic disease of the kidney, is the most common genetic cause of end-stage renal disease (ESRD) in the first two decades of life. A gene locus for nephronophthisis type 1 (NPH1) has been mapped by linkage analysis to chromosome 2q1...
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