Advance of the Research for Disease-Responsible Genes

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Other Title
  • 疾患の責任遺伝子に関する研究の進歩

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Abstract

  Over the last three decades, many disease-responsible genes have been identified due to advancement of technologies in molecular biology. Methodologies to identify disease-responsible genes have been changed according to the history. Although large subject numbers were needed previously, valuable data derived from only one rare patient have led to identify some disease-responsible genes. Recently launched next-generation sequencers have heralded the new personal genome era. We should know that we may be able to identify some disease-responsible genes by the investigation of only one patient who we meet at the bed side.

Journal

  • NO TO HATTATSU

    NO TO HATTATSU 44 (4), 277-283, 2012

    The Japanese Society of Child Neurology

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