Identification of three novel polymorphisms in the MJD1 gen and study of their frequency in the Portuguese population

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概要

• 論文の詳細を見る
• Springer-Verlag Tokyoの論文
• 2002-04-01

著者

• Sequeiros Jorge

  ポルトガル

• DO CARMO

  UnIGENe, IBMC, Universidade do Porto

• SEQUEIROS Jorge

  UnIGENe, IBMC, Universidade do Porto

• MACIEL Patricia

  UnIGENe, IBMC, Universidade do Porto

• Do Carmo

  Unigene Ibmc Universidade Do Porto

• Sequeiros Jorge

  Unigene Ibmc Universidade Do Porto

• Maciel Patricia

  Unigene Ibmc Universidade Do Porto

• Costa Maria

  UnIGENe, IBMC, Universidade do Porto

関連論文

• Identification of three novel polymorphisms in the MJD1 gen and study of their frequency in the Portuguese population
• The genomic structure and expression of MJD, the Machado-Joseph disease gene
• Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype
• A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14

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