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Article

A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.

Human mutation - 1 Jan 1995

Lu J, Costa T, Cole W G

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Alanine
Base Sequence
Collagen
Female
Glycine
Heterozygote
Humans
Male
Molecular Sequence Data
Nucleic Acid Conformation

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

Osteogenesis Imperfecta

Pedigree

Phenotype

Point Mutation

Source

Identifiers

PMID: 7749416
DOI: 10.1002/humu.1380050212

Provenance

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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