Article
[Heterozygosity loss and somatic mutations in type I and II dominant autosomal renal polycystic kidney disease: evidence of a recessive mechanism at a cell level in cystogenesis].
Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia - 1 Jan 2000
Pérez-Oller L, Torra R, Badenas C, San Millán J L, Darnell A
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is a systemic disorder mainly characterized by renal cyst formation. Cysts in ADPKD are focal in nature, since only a small fraction of nephrons become cystic. The hypothesis that a second hit may be required for cyst formation has been proposed. This hypothesis suggests that inactivation of the inherited wild-type allele by a somatic mutation triggers cyst...
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