The genetic defect of PNH.
作者信息
Kinoshita T
机构信息
Research Institute for Microbial Diseases, Osaka University, Japan.
出版信息
Clin Exp Immunol. 1994 Aug;97 Suppl 2(Suppl 2):3-4. doi: 10.1111/j.1365-2249.1994.tb06253.x.
Abstract
摘要
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本文引用的文献
1
Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.阵发性夜间血红蛋白尿中因PIG-A基因体细胞突变导致的糖基磷脂酰肌醇（GPI）锚缺陷。
Cell. 1993 May 21;73(4):703-11. doi: 10.1016/0092-8674(93)90250-t.
2
Impaired glycosylation of glycosylphosphatidylinositol-anchor synthesis in paroxysmal nocturnal hemoglobinuria leucocytes.阵发性夜间血红蛋白尿症白细胞中糖基磷脂酰肌醇锚合成的糖基化受损。
Biochem Biophys Res Commun. 1993 Mar 15;191(2):571-9. doi: 10.1006/bbrc.1993.1256.
3
Deficient biosynthesis of N-acetylglucosaminyl-phosphatidylinositol, the first intermediate of glycosyl phosphatidylinositol anchor biosynthesis, in cell lines established from patients with paroxysmal nocturnal hemoglobinuria.阵发性夜间血红蛋白尿症患者来源的细胞系中，糖基磷脂酰肌醇锚生物合成的首个中间体N-乙酰葡糖胺基磷脂酰肌醇生物合成缺陷。
J Exp Med. 1993 Feb 1;177(2):517-21. doi: 10.1084/jem.177.2.517.
4
Specific defect in N-acetylglucosamine incorporation in the biosynthesis of the glycosylphosphatidylinositol anchor in cloned cell lines from patients with paroxysmal nocturnal hemoglobinuria.阵发性夜间血红蛋白尿症患者克隆细胞系中糖基磷脂酰肌醇锚生物合成过程中N-乙酰葡糖胺掺入的特异性缺陷。
Proc Natl Acad Sci U S A. 1993 Jun 1;90(11):5272-6. doi: 10.1073/pnas.90.11.5272.
5
Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.阵发性睡眠性血红蛋白尿症（PNH）由PIG-A基因突变引起。
EMBO J. 1994 Jan 1;13(1):110-7. doi: 10.1002/j.1460-2075.1994.tb06240.x.
6
Abnormalities of PIG-A transcripts in granulocytes from patients with paroxysmal nocturnal hemoglobinuria.阵发性夜间血红蛋白尿患者粒细胞中PIG-A转录本的异常情况。
N Engl J Med. 1994 Jan 27;330(4):249-55. doi: 10.1056/NEJM199401273300404.
7
8
Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria.阵发性夜间血红蛋白尿中的体细胞突变与细胞选择
Lancet. 1994 Apr 16;343(8903):951-3. doi: 10.1016/s0140-6736(94)90068-x.
9
The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis.PIG-A的克隆，PIG-A是糖基磷脂酰肌醇（GPI）锚生物合成早期步骤中的一个成分。
Science. 1993 Feb 26;259(5099):1318-20. doi: 10.1126/science.7680492.
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