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Alport’S Syndrome (Hereditary Nephritis)

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Functional Ultrastructure
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Abstract

This is mainly an X-linked dominant inherited trait and the disease manifests in childhood and is progressive. The mutations are located in the COL4A5 gene encoding the α5 chain of type IV collagen. Autosomal Alport syndrome is caused by mutations in the COL4A3 and COL4A4 genes encoding the a3 and a4 chain of type IV collagen.

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Pavelka, M., Roth, J. (2010). Alport’S Syndrome (Hereditary Nephritis). In: Functional Ultrastructure. Springer, Vienna. https://doi.org/10.1007/978-3-211-99390-3_96

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