Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.

Type I osteogenesis imperfecta (OI) is a dominantly inherited disease characterized clinically by bone fractures during childhood, blue sclerae, and frequent hearing loss accompanied by a decreased content of type I collagen in bone and skin. Cultured skin fibroblasts from three individuals affected...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Barsh, G S, David, K E, Byers, P H
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1982
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC346523/
https://ncbi.nlm.nih.gov/pubmed/6954526
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