The First COL4A5 Exon 41A Glycine Substitution in a Family With Alport Syndrome
Background: X-linked Alport syndrome is caused by mutations in the COL4A5 gene, which encodes the a5(IV) chain. No mutations were detected in COL4A5 exons 41A and 41B.Materials and Methods: A Chinese family with suspected Alport syndrome was enrolled in the present study to establish a precise diagn...
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| Main Authors: | , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2020-04-01T00:00:00Z.
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A1234.567 |
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