Demosthenous, P

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