The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network.

doi:10.1038/ki.1996.113

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Article

The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network.

Kidney international - 1 Mar 1996

Kawai S, Nomura S, Harano T, Harano K, Fukushima T, Osawa G

Abstract excerpt

To determine the spectrum of mutations of the COL4A5 gene encoding type IV collagen among Japanese Alport syndrome (AS) patients, 60 unrelated patients (47 males and 13 females) from all over the country were recruited. Screening for mutations in all the exons (1 to 51) of the COL4A5 gene was car...

Topics

Adult
Base Sequence
Collagen
Exons
Female
Humans
Japan
Male
Molecular Sequence Data
Mutation
Nephritis, Hereditary
Polymerase Chain Reaction

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