Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.

Article

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.

American journal of human genetics - 1 Sept 1992

Willing M C, Pruchno C J, Atkinson M, Byers P H

Abstract excerpt

Dermal fibroblasts from most individuals with osteogenesis imperfecta (OI) type I produce about half the normal amount of type I procollagen, as a result of decreased synthesis of one of its constituent chains, pro alpha 1 (I). To test the hypothesis that decreased synthesis of pro alpha (I) chai...

Topics

Alleles
Base Sequence
Collagen
Heterozygote
Humans
Molecular Sequence Data
Osteogenesis Imperfecta
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length

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