Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X‐chromosome inactivation

Lignende værker

• Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X
  af: Bissonnette, John M, et al.
  Udgivet: (2014)
• Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome
  af: Gill, H, et al.
  Udgivet: (2003)
• Characterization of the MeCP2R168X knockin mouse model for Rett syndrome.
  af: Eike Wegener, et al.
  Udgivet: (2014-01-01)
• Characterization of the MeCP2(R168X) Knockin Mouse Model for Rett Syndrome
  af: Wegener, Eike, et al.
  Udgivet: (2014)
• Refining the phenotype of common mutations in Rett syndrome
  af: Colvin, L, et al.
  Udgivet: (2004)