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. N...
| Main Authors: | , |
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| Format: | Article |
| Language: | Spanish |
| Published: |
Universidad Nacional Hermilio Valdizán
2021-04-01
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| Series: | Revista Peruana de Investigación en Salud |
| Subjects: | |
| Online Access: | http://revistas.unheval.edu.pe/index.php/repis/article/view/1008 |