Phenotypic variability of CCDC103 mutation in British Pakistani children with Primary Ciliary Dyskinesia (PCD)

Ítems similars

• Mutations in CCDC39 and CCDC40 are a major cause of primary ciliary dyskinesia with microtubule disorganisation
  per: Antony, D, et al.
  Publicat: (2012)
• CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
  per: Panizzi, Jennifer R., et al.
  Publicat: (2012)
• Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia()
  per: Chilvers, Mark A, et al.
  Publicat: (2003)
• Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151
  per: Onoufriadis, A, et al.
  Publicat: (2015)
• A high prevalence CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
  per: Shoemark, Amelia, et al.
  Publicat: (2017)