Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR.

Podobné jednotky

• Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
  Autor: Mercier, B, a další
  Vydáno: (1995)
• Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients
  Autor: Kerschner, Jenny L., a další
  Vydáno: (2019)
• Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.
  Autor: Bienvenu, T, a další
  Vydáno: (1993)
• Validation of High-Resolution DNA Melting Analysis for Mutation Scanning of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene
  Autor: Audrezet, Marie-Pierre, a další
  Vydáno: (2008)
• Rare large homozygous CFTR gene deletion in an Iranian patient with cystic fibrosis
  Autor: Farjadian, Shirin, a další
  Vydáno: (2014)