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Article

Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms

1 Jan 2007

Abstract excerpt

Stickler syndrome due to mutations in COL2A1 is usually the result of premature termination codons and nonsense mediated decay resulting in haploinsufficiency of type II collagen. Here we present two missense mutations and one apparently silent mutation that each result in Stickler syndrome, but via different molecular mechanisms. One alters the translation initiating ATG codon. The second mutation is a unique...

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Identifiers

PMID: 17437277
DOI: 10.1002/humu.9497

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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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Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanismsPMID 17437277Read ↗

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