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の診断が確定した．今回同定された変異がどのような病的意義を有するか，分子生物学的に議論する．","subitem_description_type":"Abstract"}]},"item_3_description_7":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"弘前医学. 62, 2011, p.117-121","subitem_description_type":"Other"}]},"item_3_full_name_2":{"attribute_name":"著者(ヨミ)","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"12882","nameIdentifierScheme":"WEKO"}],"names":[{"name":"コレカワ, アユミ"}]},{"nameIdentifiers":[{"nameIdentifier":"11163","nameIdentifierScheme":"WEKO"}],"names":[{"name":"ナカノ, ハジメ"}]},{"nameIdentifiers":[{"nameIdentifier":"12674","nameIdentifierScheme":"WEKO"}],"names":[{"name":"ロクノヘ, ダイキ"}]},{"nameIdentifiers":[{"nameIdentifier":"12673","nameIdentifierScheme":"WEKO"}],"names":[{"name":"アカサカ, エイジロウ"}]},{"nameIdentifiers":[{"nameIdentifier":"12886","nameIdentifierScheme":"WEKO"}],"names":[{"name":"ナカジマ, コウジ"}]},{"nameIdentifiers":[{"nameIdentifier":"12887","nameIdentifierScheme":"WEKO"}],"names":[{"name":"トヨマキ, 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