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Article

The influence of pre-mRNA splicing on phenotypic modification in Stickler's syndrome and other type II collagenopathies.

Eye (London, England) - 1 Oct 2008

Richards A J, Snead M P

Abstract excerpt

PURPOSE: This paper will illustrate how variation in the processing of mutant pre-mRNA can affect the phenotypic outcome of inherited disorders of type II collagen. METHODS: Type 1 Stickler's syndrome is one of the different phenotypes resulting from mutations in COL2A1 (the type II collagenopathies). It is also the commonest, but often goes undiagnosed due to the variability of phenotypic features, which in some...

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Identifiers

PMID: 18309338
DOI: 10.1038/eye.2008.34

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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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