Partial rescue of human carbonic anhydrase II frameshift mutation by ribosomal frameshift.
A single-base-pair deletion in exon 7 of the human carbonic anhydrase II gene was found to be the molecular defect in a group of independently ascertained, clinically heterogeneous, Hispanic carbonic anhydrase II-deficient patients, all of whom had ancestors from the Caribbean islands. This mutation...
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| Publicat a: | Proc Natl Acad Sci U S A |
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| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
National Academy of Sciences
1995
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC42438/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7892236/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.92.6.2136 |
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