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Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta.

To understand the nature of the mutation in type I collagen genes in cells from an infant with the perinatal lethal form of osteogenesis imperfecta (type II), we cloned and sequenced almost 2 kilobases of a normal alpha 1(I) collagen gene and the corresponding region of a mutant alpha 1(I) gene from...

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Udgivet i:Proc Natl Acad Sci U S A
Principais autores: Barsh, G S, Roush, C L, Bonadio, J, Byers, P H, Gelinas, R E
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 1985
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC397668/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3857621/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.82.9.2870
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