Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain.
Previous observations demonstrated that a lethal variant of osteogenesis imperfecta had two altered alleles for pro alpha 2(I) chains of type I procollagen. One mutation produced a nonfunctioning allele in that there was synthesis of mRNA but no detectable synthesis of pro alpha 2(I) chains from the...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Proc Natl Acad Sci U S A |
|---|---|
| Prif Awduron: | , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
National Academy of Sciences
1988
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC281728/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2839839/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.85.14.5254 |
| Tagiau: |
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