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本教材为“医学教育改革系列教材”（英文）之一，包括12章，前两章介绍医学遗传学的历史以及遗传的分子基础，为学生奠定人类疾病的遗传学机制；接下来介绍4种经典的遗传病，即染色体病、单基因病、多基因病和体细胞遗......
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