An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen.
Mutations affecting the pro alpha 1(I) or pro alpha 2(I) collagen genes have been identified in each of the major clinical types of osteogenesis imperfecta. This study reports the presence of a heritable connective tissue disorder in a family with an osteopenic syndrome which has features of mild os...
Guardat en:
| Publicat a: | J Clin Invest |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Clinical Investigation
1992
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC442889/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1737847/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115622 |
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