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Deletions in the 5' region of dystrophin and resulting phenotypes.
Deletions in the dystrophin gene give rise to both Duchenne and Becker muscular dystrophies. Good correlation is generally found between the severity of the phenotype and the effect of the deletion on the reading frame: deletions that disrupt the reading frame result in a severe phenotype, while in...
Tallennettuna:
| Julkaisussa: | J Med Genet |
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| Päätekijät: | , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BMJ Publishing Group
1994
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016656/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7853367/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.31.11.843 |
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