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...
Na minha lista:
| Udgivet i: | Revista Peruana de Investigación en Salud |
|---|---|
| Principais autores: | , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Universidad Nacional Hermilio Valdizán
2021
|
| Fag: | |
| Online adgang: | 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 |
| Tags: |
Ingen Tags, Vær først til at tagge denne postø!
|