Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5

Clin Genet. 2012 Sep;82(3):297-9. doi: 10.1111/j.1399-0004.2012.01849.x. Epub 2012 Feb 16.

Authors

D Tsiakkis, M Pieri, P Koupepidou, P Demosthenous, K Panayidou, C Deltas

PMID: 22335431
DOI: 10.1111/j.1399-0004.2012.01849.x

No abstract available

Publication types

Letter

MeSH terms

Collagen Type IV / genetics*
Female
Genetic Association Studies*
Humans
Male
Mutation, Missense
Nephritis, Hereditary / genetics
Regression Analysis

Substances

COL4A5 protein, human
Collagen Type IV