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Activation-Resistant Homozygous Protein C R229W Mutation Causing Familial Perinatal Intracranial Hemorrhage and Delayed Onset of Thrombosis

机译：激活抗性纯合蛋白C R229W突变导致家族性围产期颅内出血和血栓形成延迟发作。

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摘要

IntroductionWe describe a family with two first-degree cousins who presented with similar phenotypes characterized by neonatal intracranial hemorrhage and subsequent onset of thrombosis.

机译：前言我们描述了一个有两个一级表亲的家庭，他们的表型相似，以新生儿颅内出血和随后的血栓形成为特征。

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期刊名称 other
作者
Abdulrahman Alsultan; Andrew J. Gale; Kadijah Kurban; Mohammed Khalifah; Fahad B. Albadr; John H. Griffin;
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作者单位

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年(卷),期 -1(143),-1
年度 -1
页码 17–21
总页数 13
原文格式 PDF
正文语种
中图分类
关键词
Intracranial Hemorrhage Mutation Neonate Protein C Thrombosis;

机译：颅内出血;突变;新生儿;蛋白C;血栓形成;

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1. Activation-resistant homozygous protein C R229W mutation causing familial perinatal intracranial hemorrhage and delayed onset of thrombosis [J] . Alsultan Abdulrahman, Gale Andrew J., Kurban Kadijah, Thrombosis Research: An International Journal on Vascular Obstruction, Hemorrhage and Hemostasis . 2016,第Null期

机译：激活抗性纯合蛋白C R229W突变导致家族性围产期颅内出血并延迟血栓形成
2. Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability [J] . Raimondo Anne, Chakera Ali J., Thomsen Soren K., Human Molecular Genetics . 2014,第24期

机译：引起新生儿或儿童期糖尿病的纯合GCK突变的表型严重性主要是通过对蛋白质稳定性的影响来介导的
3. Does traumatic subarachnoid hemorrhage caused by diffuse brain injury cause delayed ischemic brain damage? Comparison with subarachnoid hemorrhage caused by ruptured intracranial aneurysms. [J] . Fukuda T, Hasue M, Ito H Neurosurgery . 1998,第5期

机译：弥漫性脑损伤引起的创伤性蛛网膜下腔出血会导致缺血性脑损伤延迟吗？与颅内动脉瘤破裂引起的蛛网膜下腔出血的比较。
4. Detection of Defective'Apolipoprotein B-100 R3500Q Mutation Caused Familial Hypercholesterolemia in Vietnamese Patients [C] . Phuong Kim Truong, Cong Van Bui, Thuan Due Lao International Conference on the Development of Biomedical Engineering in Vietnam . 2018

机译：检测缺陷的'Apolipoprotein B-100 R3500Q突变引起越南患者的家族高胆固醇血症
5. Elucidating Mechanisms of Neuronal Dysfunction Caused by Familial Alzheimer's Disease Mutations in iPSC Derived Neurons. [D] . Woodruff, Grace Elaine. 2015

机译：阐明在iPSC衍生的神经元中由家族性阿尔茨海默氏病突变引起的神经元功能障碍的机制。
6. Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability [O] . Anne Raimondo, Ali J. Chakera, Soren K. Thomsen, -1

机译：导致新生儿或儿童期糖尿病的纯合GCK突变的表型严重性主要是通过对蛋白质稳定性的影响来介导的
7. Delayed Low Density Lipoprotein (LDL) Catabolism Despite a Functional Intact LDL-Apolipoprotein B Particle and LDL-Receptor in a Subject with Clinical Homozygous Familial Hypercholesterolemia [O] . H. H.-J. Schmidt 1998

机译：延迟低密度脂蛋白（LDL）分解代谢尽管在受试者中具有临床纯合家族高胆固醇血症的受试者中的功能完整的LDL-载脂蛋白B颗粒和LDL-受体

Activation-Resistant Homozygous Protein C R229W Mutation Causing Familial Perinatal Intracranial Hemorrhage and Delayed Onset of Thrombosis

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