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Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?
BACKGROUND: To contribute further to the classification of three CFTR amino acid changes (p.I148T, p.R74W and p.D1270N) either as CF or CBAVD-causing mutations or as neutral variations. METHODS: The CFTR genes from individuals who carried at least one of these changes were extensively scanned by a w...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2004
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC509248/ https://ncbi.nlm.nih.gov/pubmed/15287992 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-5-19 |
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