Article
A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.
Nature genetics - 1 Oct 1997
Hildebrandt F, Otto E, Rensing C, Nothwang H G, Vollmer M, Adolphs J, Hanusch H, Brandis M
Abstract excerpt
Juvenile nephronophthisis (NPH), an autosomal recessive cystic kidney disease, is the primary genetic cause of chronic renal failure in children. About two thirds of patients with NPH carry a large homozygous deletion at the gene locus NPH1 on 2q13. We here identify a novel gene. NPHP1, which extends over most of this common deletion. The 4.5-kb transcript encodes a protein with an SH3 domain, which is highly...
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