Unusual Splice-Site Mutations in the RSK2 Gene and Suggestion of Genetic Heterogeneity in Coffin-Lowry Syndrome

Gelijkaardige items

• Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin–Lowry syndrome
  door: Zeniou, Maria, et al.
  Gepubliceerd in: (2004)
• Coffin–Lowry syndrome
  door: Marques Pereira, Patricia, et al.
  Gepubliceerd in: (2010)
• Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.
  door: Jacquot, S, et al.
  Gepubliceerd in: (1998)
• Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome
  door: Manouvrier-Hanu, S, et al.
  Gepubliceerd in: (1999)
• The Coffin–Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1
  door: Zeniou-Meyer, Maria, et al.
  Gepubliceerd in: (2008)