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Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.

We have characterized a mutation in a pro alpha 1(I) procollagen gene (COL1A1) that results in lethal (type II) osteogenesis imperfecta. The mutation is a single base change that results in a cysteine-for-glycine substitution at position 988 of the triple-helical portion of half of the alpha 1(I) ch...

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Udgivet i:Proc Natl Acad Sci U S A
Principais autores: Cohn, D H, Byers, P H, Steinmann, B, Gelinas, R E
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 1986
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC386434/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3016737/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.83.16.6045
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