Frequency of common CFTR gene mutations in Venezuelan patients with cystic fibrosis

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Sánchez, Karen; Arcia, Orlando; Matute, Xiorama; Mindiola, Luz; Chaustre, Ismenia; Takiff, Howard;
  • Publisher: Universidad del Zulia
  • Subject: cystic fibrosis | cystic fibrosis transmembrane conductance regulator [CFTR] | Venezuela | p.Ser1235Arg | p.Glu1308X | p.Leu558Ser | fibrosis quística | regulador de la conductancia transmembrana de la fibrosis quística [CFTR]

Mutations in the CFTR gene in Cystic Fibrosis (CF) patients have geographic differences and there is scant data on their prevalence in Venezuelan patients. This study determined the frequency of common CFTR gene mutations in these patients. We amplified and sequenced ex... View more
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