Large genomic rearrangements in the CFTR gene contribute to CBAVD

Antzeko izenburuak

• A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements
  nork: Taulan, Magali, et al.
  Argitaratua: (2009)
• WGA Allows the Molecular Characterization of a Novel Large CFTR Rearrangement in a Black South African Cystic Fibrosis Patient
  nork: des Georges, Marie, et al.
  Argitaratua: (2008)
• Comprehensive and Rapid Genotyping of Mutations and Haplotypes in Congenital Bilateral Absence of the Vas Deferens and Other Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders
  nork: Bareil, Corinne, et al.
  Argitaratua: (2007)
• Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation
  nork: Viart, Victoria, et al.
  Argitaratua: (2012)
• Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?
  nork: Claustres, Mireille, et al.
  Argitaratua: (2004)