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2. Inborn Errors of Metabolism Inborn errors of metabolism are rare genetic disorders in which the body cannot turn food into energy (metabolize food) normally. The disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components
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1.Genes can be mutated in many ways 2. Somatic versus germline mutations 3. Types of mutation effects
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1. Mutagens or Mutagenic Agents 2. Mechanism of Mutation 3. Result of mutation 4.functional effects of the change. 5.Genetic Effects of mutation 6. Repair of Mutation
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1.Genes can be mutated in many ways 2. Somatic versus germline mutations 3. Types of mutation effects
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复旦大学:《医学遗传学 Medical Genetics》课程教学资源(课件讲稿)Single gene disorder_Alexander Endler
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复旦大学:《药物设计学》课程教学资源(教学研究)靶向药物设计_Choline-Derivate-Modifi ed Nanoparticles for Brain-Targeting Gene Delivery
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《遗传学》课程教学资源(学科前沿)遗传与表观遗传 Stability and flexibility of epigenetic gene regulation in mammalian development
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复旦大学上海医学院:《医学遗传学 Medical Genetics》课程PPT教学课件(英文)11单基因遗传病 Single Gene Disorde(B)
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1. Base(s) in DNA is (are) changed to other(s), or a base(s) is (are) added or removed. 2. Rearrangements of the chromosomes occur and are also considered
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◼ 前言 ◼ 先天性代谢缺陷的共同规律 ◼ 糖代谢疾病 ◼ 氨基酸代谢疾病 ◼ 核酸代谢疾病
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