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

Παρόμοια τεκμήρια

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