Relationship between genotype and phenotype for the CFTR gene W846X mutation

مواد مشابهة

• Functional studies of rare missense mutations in CFTR facilitate interpretation of genotype-phenotype relationships
  بواسطة: Krasnov, Kristina V., وآخرون
  منشور في: (2008)
• Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W.
  بواسطة: Antiñolo, G, وآخرون
  منشور في: (1997)
• Relationship between genotype and phenotype of high mutation in 20 patients with gitelman syndrome
  بواسطة: SHAO Chang-juan, وآخرون
  منشور في: (2019-01-01)
• Assessing the Disease-Liability of Mutations in CFTR
  بواسطة: Ferec, Claude, وآخرون
  منشور في: (2012)
• Therapeutic benefit observed with the CFTR potentiator, ivacaftor, in a CF patient homozygous for the W1282X CFTR nonsense mutation
  بواسطة: Mutyam, Venkateshwar, وآخرون
  منشور في: (2016)