Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.

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Article

Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.

Acta biochimica Polonica - 1 Jan 2002

Gajko-Galicka Anna

Abstract excerpt

Osteogenesis imperfecta (OI), commonly known as "brittle bone disease", is a dominant autosomal disorder characterized by bone fragility and abnormalities of connective tissue. Biochemical and molecular genetic studies have shown that the vast majority of affected individuals have mutations in either the COL1A1 or COL1A2 genes that encode the chains of type I procollagen. OI is associated with a wide spectrum of...

Topics

Collagen Type I
Humans
Mutation
Osteogenesis Imperfecta
Phenotype

Source

Open in PubMed

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PMID: 12362985

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