Article
Cystic diseases of the kidney: molecular biology and genetics.
Archives of pathology & laboratory medicine - 1 Apr 2010
Deltas Constantinos, Papagregoriou Gregory
Abstract excerpt
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...
Topics
- Alleles
- Animals
- Chromosome Mapping
- Cilia
- Disease Models, Animal
- Humans
- Kidney Diseases, Cystic
- Mutation
- Polycystic Kidney, Autosomal Dominant
- Polycystic Kidney, Autosomal Recessive