X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5. [electronic resource]
- Clinical genetics Mar 2012
- 240-8 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1399-0004
10.1111/j.1399-0004.2011.01647.x doi
Adolescent Adult Codon, Nonsense Collagen Type IV--genetics Cyprus--epidemiology Female Frameshift Mutation Genetic Association Studies Greece--epidemiology Humans Kidney Failure, Chronic--etiology Male Middle Aged Mutation Mutation, Missense Nephritis, Hereditary--complications Phenotype