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大腸ポリポーシス症患者における生殖細胞系列遺伝子変異検出率（平成 19 年度）

大腸ポリポーシス症患者における生殖細胞系列遺伝子変異検出率（平成 19 年度）. MYH 大領域異常 （ 1.0% ）. 遺伝子変異不明 （ 11.5 ％）. APC 微小変異 検出率 （ 78.8 ％）. MYH 微小変異 （ 3.8% ）. Mutation type Nonsense mut. Missense mut. Insertion Deletion Splicing site mut. Number (%) 31 (37.8%) 0 6 (7.3%) 37 (45.1%) 8 (9.8%). APC 大領域異常

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大腸ポリポーシス症患者における生殖細胞系列遺伝子変異検出率（平成 19 年度）

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  1. 大腸ポリポーシス症患者における生殖細胞系列遺伝子変異検出率（平成19年度）大腸ポリポーシス症患者における生殖細胞系列遺伝子変異検出率（平成19年度） MYH大領域異常 （1.0%） 遺伝子変異不明 （11.5％） APC微小変異 検出率 （78.8％） MYH微小変異 （3.8%） Mutation type Nonsense mut. Missense mut. Insertion Deletion Splicing site mut. Number (%) 31 (37.8%) 0 6 (7.3%) 37 (45.1%) 8 (9.8%) APC大領域異常 （4.8％）

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