Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.

Eitemau Tebyg

• Unusual Splice-Site Mutations in the RSK2 Gene and Suggestion of Genetic Heterogeneity in Coffin-Lowry Syndrome
  gan: Zeniou, Maria, et al.
  Cyhoeddwyd: (2002)
• Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome
  gan: Manouvrier-Hanu, S, et al.
  Cyhoeddwyd: (1999)
• Coffin–Lowry syndrome
  gan: Marques Pereira, Patricia, et al.
  Cyhoeddwyd: (2010)
• Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.
  gan: Merienne, K, et al.
  Cyhoeddwyd: (1998)
• Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin–Lowry syndrome
  gan: Zeniou, Maria, et al.
  Cyhoeddwyd: (2004)