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导致G6PC3缺乏的创始突变的分子和临床表征

Xin Zhen1,2, Michael J Betti1,3, Meltem Ece Kars4

  • 1Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Journal of clinical immunology
|December 4, 2024
PubMed
概括

在墨西哥人中常见的G6PC3基因突变会通过破坏糖分解来导致严重的先天性中性缺血. 这种创始基因突变导致功能丧失,影响患者的健康并有助于诊断.

关键词:
创始人效应是什么在G6PC3缺陷中.免疫的先天错误 免疫的先天错误代谢功能障碍 代谢功能障碍主要免疫缺陷是一个主要的免疫缺陷.严重的先天性中性子.

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