Identification of mutations in the COL4A5 collagen gene in Alport syndrome.

doi:10.1126/science.2349482

Article

Identification of mutations in the COL4A5 collagen gene in Alport syndrome.

Science (New York, N.Y.) - 8 Jun 1990

Barker D F, Hostikka S L, Zhou J, Chow L T, Oliphant A R, Gerken S C, Gregory M C, Skolnick M H, Atkin C L, Tryggvason K

Abstract excerpt

X-linked Alport syndrome is a hereditary glomerulonephritis in which progressive loss of kidney function is often accompanied by progressive loss of hearing. Ultrastructural defects in glomerular basement membranes (GBM) of Alport syndrome patients implicate an altered structural protein as the c...

Topics

Blotting, Southern
Cloning, Molecular
Collagen
DNA
Exons
Female
Genes
Humans
Male
Molecular Weight
Mutation
Nephritis, Hereditary
Pedigree
Restriction Mapping
X Chromosome

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