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Article

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

Eye (London, England) - 1 Jun 2006

Yoshida S, Yamaji Y, Kuwahara R, Yoshida A, Hisatomi T, Ueno A, Ishibashi T

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Identifiers

PMID: 16021188
DOI: 10.1038/sj.eye.6702001

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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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I.PMID 16021188Read ↗

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

Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.Semantic 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 ↗

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

Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome.Semantic proximity Read ↗

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

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

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

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

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

Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.Semantic proximity Read ↗

Molecular genetics of the COL2A1-related disorders.Semantic proximity Read ↗

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