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Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta.

We reviewed clinical and biochemical findings from 132 probands with nonlethal forms of osteogenesis imperfecta (OI) whose fibroblasts were sent to the University of Washington for diagnostic studies in the years 1981-87. In cells from 86% of probands with nonlethal OI we identified biochemical alte...

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Autores principales: Wenstrup, R J, Willing, M C, Starman, B J, Byers, P H
Formato: Artigo
Lenguaje:Inglês
Publicado: 1990
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683590/
https://ncbi.nlm.nih.gov/pubmed/2339695
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