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- W2132795980 endingPage "582" @default.
- W2132795980 startingPage "569" @default.
- W2132795980 abstract "Abstract Context.—Cystic diseases of the kidney are a very heterogeneous group of renal inherited conditions, with more than 33 genes involved and encompassing X-linked, autosomal dominant, and autosomal recessive inheritance. Although mostly monogenic with mendelian inheritance, there are clearly examples of oligogenic inheritance, such as 3 mutations in 2 genes, while the existence of genetic modifiers is perhaps the norm, based on the extent of variable expressivity and the broad spectrum of symptoms. Objectives.—To present in the form of a mini review the major known cystic diseases of the kidney for which genes have been mapped or cloned and characterized, with some information on their cellular and molecular biology and genetics, and to pay special attention to commenting on the issues of molecular diagnostics, in view of the genetic and allelic heterogeneity. Data Sources.—We used major reviews that make excellent detailed presentation of the various diseases, as well as original publications. Conc..." @default.
- W2132795980 created "2016-06-24" @default.
- W2132795980 creator A5029748749 @default.
- W2132795980 creator A5036908261 @default.
- W2132795980 date "2010-04-01" @default.
- W2132795980 modified "2023-09-26" @default.
- W2132795980 title "Cystic diseases of the kidney: molecular biology and genetics" @default.
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