Compound heterozygosity for the delta F508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferens.

Ítems similars

• CFTR Haplotype Analysis Reveals Genetic Heterogeneity in the Etiology of Congenital Bilateral Aplasia of the Vas Deferens
  per: Rave-Harel, Naama, et al.
  Publicat: (1995)
• Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.
  per: Devoto, M, et al.
  Publicat: (1991)
• Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies
  per: Gajbhiye, Rahul, et al.
  Publicat: (2016)
• Expression of ΔF508 Cystic Fibrosis Transmembrane Regulator (CFTR) Decreases Membrane Sialylation
  per: Dosanjh, Amrita, et al.
  Publicat: (2009)
• Tezacaftor/Ivacaftor in Subjects with Cystic Fibrosis and F508del/F508del-CFTR or F508del/G551D-CFTR
  per: Donaldson, Scott H., et al.
  Publicat: (2018)