nephrologylinx Medical News about Novel COL4A3 Mutations

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Article Summary

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Novel COL4A3 Mutations in African American Siblings With Autosomal Recessive Alport Syndrome
American Journal of Kidney Diseases, 04/24/08

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Free Abstract

Cook C et al. - We describe a novel mutational study in 2 African American siblings with autosomal recessive Alport syndrome. In an African American population in which autosomal recessive Alport syndrome is rarely seen, complete sequencing of the COL4A3 and COL4A4 genes may be necessary to identify the underlying mutation and confirm the diagnosis.

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