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Article

A novel mutation in intron 11 of the COL2A1 gene in a patient with type 1 Stickler syndrome.

Retina (Philadelphia, Pa.) - 1 Jan 2006

Leung L, Hyland J C, Young A, Goldberg M F, Handa J T

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 16395149
DOI: 10.1097/00006982-200601000-00019

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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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in intron 11 of the COL2A1 gene in a patient with type 1 Stickler syndrome.PMID 16395149Read ↗

Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I.Semantic proximity Read ↗

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.Semantic proximity Read ↗

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Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patientsSemantic proximity Read ↗

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencingSemantic proximity Read ↗

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.Semantic proximity Read ↗

A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant.Semantic proximity Read ↗

Arg519-Cys mutation in COL2A1: evidence for multiple founders.Semantic proximity Read ↗

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A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia.Semantic proximity Read ↗

Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling.Semantic proximity Read ↗

A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I.Semantic proximity Read ↗

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