The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare condition
CF is an autosomal recessive disease, requiring mutations to be present in both alleles in the CF transmembrane conductance regulatory gene (CFTR). The c.3274T> C (p.Tyr1092His) mutation is not registered in the “CFTR2 project” database, but it is registered in The Human Gene Mutation Database. Neit...
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| Publicat a: | Revista Peruana de Investigación en Salud |
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| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Universidad Nacional Hermilio Valdizán
2021
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| Matèries: | |
| Accés en línia: | https://www.redalyc.org/articulo.oa?id=635766604013 https://www.redalyc.org/journal/6357/635766604013/ https://www.redalyc.org/journal/6357/635766604013/html/ https://www.redalyc.org/journal/6357/635766604013/635766604013.epub https://www.redalyc.org/journal/6357/635766604013/movil https://doi.org/10.35839/repis.5.2.1008 |
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