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Article

Procollagen II gene mutation in Stickler syndrome.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 1992

Brown D M, Nichols B E, Weingeist T A, Sheffield V C, Kimura A E, Stone E M

Abstract excerpt

Four affected members of a family with Stickler syndrome were found to have a single base-pair deletion resulting in a translational frameshift in exon 40 of the procollagen II (COL2A1) gene on chromosome 12. This mutation was not seen in any of five clinically unaffected family members or in any of 15 unrelated control patients. All affected members had distinctly abnormal vitreous syneresis and all had retinal...

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Identifiers

PMID: 1444917
DOI: 10.1001/archopht.1992.01080230089027

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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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Procollagen II gene mutation in Stickler syndrome.PMID 1444917Read ↗

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