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

Ítems similars

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• Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome
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• Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.
  per: Merienne, K, et al.
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