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The COL4A5 gene in Japanese Alport syndrome patients: Spectrum of mutations of all exons

✍ Scribed by Kawai, Shinichiro; Nomura, Shinsuke; Harano, Teruo; Harano, Keiko; Fukushima, Tatsuo; Osawa, Gengo


Book ID
109884333
Publisher
Nature Publishing Group
Year
1996
Tongue
English
Weight
915 KB
Volume
49
Category
Article
ISSN
0085-2538

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Alport syndrome (AS) can be caused by mutations in COL4A5, one of the six type IV collagen genes. For the purposes of confirming diagnoses, carrier screening and correlating genotype to phenotype, we have screened all 51 exons of this gene by SSCP analysis in 153 families with suspected AS. Mutation

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