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

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) chains...

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Bibliographic Details
Main Authors: Willing, M C, Pruchno, C J, Atkinson, M, Byers, P H
Format: Artigo
Language:Inglês
Published: 1992
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682712/
https://ncbi.nlm.nih.gov/pubmed/1353940
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