Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51

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概要

• 論文の詳細を見る
• Nature Publishing Groupの論文

著者

• Oliveira Jorge

  Unidade De Genetica Molecular Centro De Genetica Medica Dr. Jacinto Magalhaes Insa

• Santos Rosario

  Unidade De Genetica Molecular Centro De Genetica Medica Dr. Jacinto Magalhaes Insa

関連論文

• Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy
• Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51
• Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51

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