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Review Article

铜诱导的表观遗传变化塑造了威尔逊病的临床表型

卷 28, 期 14, 2021

发表于: 30 July, 2020

页: [2707 - 2716] 页: 10

弟呕挨: 10.2174/0929867327666200730214757

价格: $65

摘要

威尔逊氏病是一种先天性铜代谢障碍，其发病机制至少部分尚不清楚。 携带相同基因型的受试者可能表现出完全不同的表型，因发病年龄或肝脏、神经或精神临床表现而异。 无法在 ATPase 铜转运 β (ATP7B) 基因中的突变类型与表型表现之间找到明确的相关性，这促使许多作者寻找与遗传变化相互作用的表观遗传因素。 在这里，讨论了关于铜过载改变全球 DNA 甲基化状态的能力的证据。

关键词: 铜、表观遗传、威尔逊病、ATP7B、肝脏病理学、临床表型、威尔逊病。

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