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Article

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

PloS one - 1 Jan 2015

Baikara Barshagul T, Zholdybayeva Elena V, Rakhimova Saule E, Nigmatullina Nazym B, Momynaliev Kuvat T, Ramanculov Yerlan M

Abstract excerpt

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 study was to define the SNP profiles for COL4A5 in patients with hereditary nephritis and hematuria. For this, we...

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Identifiers

PMID: 26168235
DOI: 10.1371/journal.pone.0132010
PMCID: PMC4500592

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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