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The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen.

The features of three babies with lethal perinatal osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen were studied. The babies were heterozygous for this substitution at residue 391 in case 1 (0I24), 667 in case 2 (0I51),...

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Autori principali: Cole, W G, Chow, C W, Rogers, J G, Bateman, J F
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1990
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017023/
https://ncbi.nlm.nih.gov/pubmed/2325102
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