Cystic fibrosis presentation in del. F508 and p. Tyr109Glyfs compound heterozygote CFTR state: a case report
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DOI: 10.3325//cmj.2019.60.246
Abstract: The diagnosis of cystic fibrosis (CF) is commonly confirmed by molecular genetics with the presence of specific mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene. We report a case of cystic fibrosis (CF) in… read more here.
Keywords: cystic fibrosis; fibrosis; case; compound heterozygote ... See more keywords