Description of rare mutations and a novel variant in Brazilian patients with Cystic Fibrosis: a case series from a referral center in the Bahia State. [electronic resource]
Producer: 20190424Description: 2045-2051 p. digitalISSN:- 1573-4978
- Adolescent
- Adult
- Alleles
- Brazil
- Child
- Child, Preschool
- Cystic Fibrosis -- genetics
- Cystic Fibrosis Transmembrane Conductance Regulator -- genetics
- Female
- Gene Frequency -- genetics
- Genetic Heterogeneity
- Genetic Predisposition to Disease -- genetics
- Genetic Testing
- Genotype
- High-Throughput Nucleotide Sequencing -- methods
- Humans
- Male
- Mutation
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Publication Type: Case Reports; Journal Article
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