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A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia
Kubota T,
Roca X,
Kimura T,
Kokunai Y,
Nishino I,
Sakoda S,
Krainer AR,
Takahashi MP

Human Mutation
  32 (7): 773-782; Jul 2011  
[DOI] [Full Text]

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