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 D...
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Main Authors: | Samuel Pecho-Silva (Author), Ana C. Navarro-Solsol (Author) |
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Format: | Book |
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Universidad Nacional Hermilio Valdizán,
2021-04-01T00:00:00Z.
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