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

Documenti analoghi

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