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Article

Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype.

Journal of medical genetics - 1 Feb 2001

Nicholls A C, Valler D, Wallis S, Pope F M

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Share to Alternative Splicing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 11288717
DOI: 10.1136/jmg.38.2.132
PMCID: PMC1734801

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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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Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype.PMID 11288717Read ↗

A 931 + 2T-->C transition in one COL1A2 allele causes exon 16 skipping in PRO alpha 2(I) mRNA and produces moderately severe OI.Semantic proximity Read ↗

Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype.Semantic proximity Read ↗

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Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes.Semantic proximity Read ↗

Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges.Semantic proximity Read ↗

RETRACTED: Disrupting the Genetic Code: The Impact of a novel homozygous/heterozygous Splicing Mutation on COL4A3 with mild phenotype in an autosomal recessive Alport Syndrome’s familySemantic proximity Read ↗

COL1-Related Disorders: Case Report and Review of Overlapping SyndromesSemantic proximity Read ↗

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.Semantic proximity Read ↗

A second report of p.Pro986Leu variant in COL2A1-phenotypic overlap with SEDC and other forms of type II collagenopathies.Semantic proximity Read ↗

Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability.Semantic proximity Read ↗

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.Semantic proximity Read ↗

Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.Semantic proximity Read ↗

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