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Article

Molecular testing for adult type Alport syndrome.

BMC nephrology - 17 Nov 2009

Pont-Kingdon Genevieve, Sumner Kelli, Gedge Friederike, Miller Chris, Denison Joyce, Gregory Martin, Lyon Elaine

Abstract excerpt

BACKGROUND: Alport syndrome (AS) is a progressive renal disease with cochlear and ocular involvement. The majority of AS cases are X-linked (XLAS) and due to mutations in the COL4A5 gene. Although the disease may appear early in life and progress to end stage renal disease (ESRD) in young adults,...

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Identifiers

PMID: 19919694
DOI: 10.1186/1471-2369-10-38
PMCID: PMC2780398

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19919694-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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