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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Detalles Bibliográficos
Publicado en:J Med Genet
Main Authors: Cole, W G, Chow, C W, Rogers, J G, Bateman, J F
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 1990
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017023/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2325102/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.27.4.228
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