Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

To resolve uncertainty concerning the inheritance of the perinatal lethal form of osteogenesis imperfecta (OI type II), we collected family data and radiographs for 71 probands and analyzed the collagens synthesized by dermal fibroblastic cells cultured from 43 of the probands, 19 parental pairs, an...

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Bibliographic Details
Main Authors: Byers, P H, Tsipouras, P, Bonadio, J F, Starman, B J, Schwartz, R C
Format: Artigo
Language:Inglês
Published: 1988
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715253/
https://ncbi.nlm.nih.gov/pubmed/3341380
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