Article
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
Human mutation - 1 Apr 2005
Hoefele Julia, Sudbrak Ralf, Reinhardt Richard, Lehrack Silvia, Hennig Steffen, Imm Anita, Muerb Ulla, Utsch Boris, Attanasio Massimo, O'Toole John F, Otto Edgar, Hildebrandt Friedhelm
Abstract excerpt
Nephronophthisis (NPH), a recessive cystic kidney disease, is the most frequent genetic cause for end-stage renal disease in the first two decades of life. Mutations in three genes (NPHP1, 2, and 3) were identified as causative. Extrarenal manifestations are known, such as retinitis pigmentosa (Senior-Loken syndrome, SLS) and ocular motor apraxia type Cogan. Recently, we identified a novel gene (NPHP4) as mutated...
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