A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome

Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy. Approximately 80% of Alport syndrome cases are caused by X-linked mutations in the COL4A5 gene encoding type IV collagen. The objective of this s...

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Udgivet i:PLoS One
Main Authors: Baikara, Barshagul T., Zholdybayeva, Elena V., Rakhimova, Saule E., Nigmatullina, Nazym B., Momynaliev, Kuvat T., Ramanculov, Yerlan M.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2015
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4500592/
https://ncbi.nlm.nih.gov/pubmed/26168235
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0132010
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