A nonsense mutation of the ATRX gene causing mild, moderate and profound mental retardation in members of a single family.

Lignende værker

• A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
  af: Guerrini, R, et al.
  Udgivet: (2000)
• alpha-thalassaemia, X-linked mental retardation syndrome protein, ATRX, interacts with ribosomal genes.
  af: Law, M, et al.
  Udgivet: (2003)
• Identification of mutations in ATRX by RNase mismatch cleavage.
  af: Gibbons, R, et al.
  Udgivet: (1997)
• ATRX: taming tandem repeats.
  af: Gibbons, R, et al.
  Udgivet: (2010)
• Functional significance of mutations in the Snf2 domain of ATRX.
  af: Mitson, M, et al.
  Udgivet: (2011)