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...
Gardado en:
| Publicado en: | Proc Natl Acad Sci U S A |
|---|---|
| Principais autores: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
National Academy of Sciences
1986
|
| Assuntos: | |
| Acceso en liña: | 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 |
| Tags: |
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|