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Article

A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.

Human genetics - 1 Feb 1995

Rose N J, Mackay K, Byers P H, Dalgleish R

Abstract excerpt

In general, osteogenesis imperfecta (brittle bone disease) is caused by heterozygous mutations in the genes encoding the alpha 1 or alpha 2 chains of type I collagen (COL1A1 and COL1A2, respectively). In this study we screened these genes in a proband presenting with the severe form (type III) of...

Topics

Base Sequence
Cells, Cultured
Child, Preschool
Collagen
Female
Glycine
Humans
Molecular Sequence Data
Osteogenesis Imperfecta
Phenotype
Point Mutation
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single-Stranded Conformational

Serine

Source

Identifiers

PMID: 7860070
DOI: 10.1007/BF00209405

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7860070-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.PMID 7860070Read ↗

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Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.Semantic proximity Read ↗

Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --> Ser substitution in type I collagen and an unrelated patient with an identical mutation.Semantic proximity Read ↗

Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III.Semantic proximity Read ↗

Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.Semantic proximity Read ↗

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Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III.Semantic proximity Read ↗

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