Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report

Lignende værker

• Rare large homozygous CFTR gene deletion in an Iranian patient with cystic fibrosis
  af: Farjadian, Shirin, et al.
  Udgivet: (2014)
• Mild CFTR mutations and genetic predisposition to lactase persistence in cystic fibrosis
  af: Mądry, Edyta, et al.
  Udgivet: (2011)
• Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.
  af: Bienvenu, T, et al.
  Udgivet: (1993)
• Ivacaftor in Subjects With Cystic Fibrosis Who Are Homozygous for the F508del-CFTR Mutation
  af: Flume, Patrick A., et al.
  Udgivet: (2012)
• A Rare Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation Associated With Typical Cystic Fibrosis in an Arab Child
  af: Mathew, Aji, et al.
  Udgivet: (2021)