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Article

Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA).

BMC medical genetics - 26 Apr 2013

Vijzelaar Raymon, Waller Sarah, Errami Abdellatif, Donaldson Alan, Lourenco Teresa, Rodrigues Marcia, McConnell Vivienne, Fincham Gregory, Snead Martin, Richards Allan

Abstract excerpt

BACKGROUND: COL11A1 is a large complex gene around 250 kb in length and consisting of 68 exons. Pathogenic mutations in the gene can result in Stickler syndrome, Marshall syndrome or Fibrochondrogenesis. Many of the mutations resulting in either Stickler or Marshall syndrome alter splice sites and result in exon skipping, which because of the exon structure of collagen genes usually leaves the message in-frame....

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PMID: 23621912
DOI: 10.1186/1471-2350-14-48
PMCID: PMC3652776

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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