臨床眼科64巻5号

2010年05月発行

連載 今月の話題

角膜ジストロフィの遺伝子診断update

著者： 山田直之¹ 西田輝夫¹

所属機関： ¹山口大学大学院医学系研究科眼科学

ページ範囲：P.623 - P.628

　角膜ジストロフィの遺伝子変異は，1992年に最初の同定が行われて以来，約300種類が見つかっている。近年ではnovel mutationの報告数も減少傾向となる一方で，一個体に複数の遺伝子変異を持つ症例などの報告が増えてきている。本稿では既知の知見のみでは説明し難いこれらの症例について概説する。

参考文献

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