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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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| Publicado no: | J Med Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
1990
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| Assuntos: | |
| Acesso em linha: | 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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