Article
Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.
Disease markers - 1 Jan 2021
Cambraia Amanda, Junior Mario Campos, Zembrzuski Verônica Marques, Junqueira Ricardo Magrani, Cabello Pedro Hernán, de Cabello Giselda Maria Kalil
Abstract excerpt
Cystic fibrosis (CF), an autosomal recessive genetic disease, is recognized as one of the most prevalent diseases in Caucasian populations. Epidemiological data show that the incidence of CF varies between countries and ethnic groups in the same region. CF occurs due to pathogenic variants in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR), located on chromosome 7q31.2. To date, more...
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