HP:0003160

来自中国HPO翻译委员会
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基本信息

HP:0003160
名称 Abnormal isoelectric focusing of serum transferrin
定义 Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded.
中文译名 血清转铁蛋白的等电位聚焦异常
中文定义 糖基化转铁蛋白的浓度可作为N联糖基化保真度的标记物在血清中检测。在先天性糖基化缺陷病的传统命名法中,整个聚糖的缺失被命名为I型,一个或多个单糖的缺失被命名为II型。这些术语因历史原因被保留,但应记录新的注释作为对糖基化缺陷的精确注解。
链接 同义词(近义词、细分词汇)中文定义HPO源地址

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