Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.

مواد مشابهة

• Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H.
  بواسطة: Bienvenu, T, وآخرون
  منشور في: (1993)
• A Novel G542X CFTR Rat Model of Cystic Fibrosis Is Sensitive to Nonsense Mediated Decay
  بواسطة: Sharma, Jyoti, وآخرون
  منشور في: (2020)
• Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.
  بواسطة: Desgeorges, M, وآخرون
  منشور في: (1994)
• A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.
  بواسطة: Schloesser, M, وآخرون
  منشور في: (1991)
• A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies
  بواسطة: McHugh, Daniel R., وآخرون
  منشور في: (2018)