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

Ítems similars

• Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.
  per: Desgeorges, M, et al.
  Publicat: (1994)
• A Novel G542X CFTR Rat Model of Cystic Fibrosis Is Sensitive to Nonsense Mediated Decay
  per: Sharma, Jyoti, et al.
  Publicat: (2020)
• Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H.
  per: Bienvenu, T, et al.
  Publicat: (1993)
• Severe cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote.
  per: Bienvenu, T, et al.
  Publicat: (1995)
• A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies
  per: McHugh, Daniel R., et al.
  Publicat: (2018)