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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 osteogenesis imperfecta for mutations which might result in the phenotype. Single-strand conformation polymorphism...

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Source

Identifiers

PMID: 7860070
DOI: 10.1007/BF00209405

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

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