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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Barsh, G S, David, K E, Byers, P H
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1982
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC346523/
https://ncbi.nlm.nih.gov/pubmed/6954526
Etiketak: Etiketa erantsi
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