A novel nonsense mutation of the CYLD gene in a Turkish family with multiple familial trichoepithelioma

Hasonló tételek

• The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene
  Szerző: Farkas Katalin, et al.
  Megjelent: (2016)
• A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome
  Szerző: Nagy Nikoletta, et al.
  Megjelent: (2012)
• A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome
  Szerző: Nagy Nikoletta, et al.
  Megjelent: (2012)
• Predominant neurological phenotype in a Hungarian family with two novel mutations in the XPA gene-case series
  Szerző: Zádori Dénes, et al.
  Megjelent: (2019)
• Neurocognitive characterization of an SCA28 family caused by a novel AFG3L2 gene mutation
  Szerző: Szpisjak László, et al.
  Megjelent: (2017)