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Article

Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure.

Clinical journal of the American Society of Nephrology : CJASN - 1 Jan 2010

Tan Rachel, Colville Deb, Wang Yan Yan, Rigby Lin, Savige Judy

Abstract excerpt

BACKGROUND AND OBJECTIVES: Previous studies of X-linked Alport syndrome demonstrated that "severe" COL4A5 mutations (large deletions and rearrangements, nonsense and frame-shift mutations, and glycine substitutions in the carboxy-terminal residues) were associated with early-onset renal failure, hearing loss, and lenticonus in affected male patients. This study examined whether severe mutations also resulted in...

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Identifiers

PMID: 19965530
DOI: 10.2215/CJN.01030209
PMCID: PMC2801648

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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