Genetic and clinical characterization of congenital fibrinogen disorders in Polish patients: Identification of three novel fibrinogen gamma chain mutations

Wypasek Ewa; Klukowska Anna; Zdziarska Joanna; Zawilska Krystyna; Trelinski Jacek; Iwaniec Teresa; Mital Andrzej; Pietrys Danuta; Sydor Wojciech; Neerman-Arbez Marguerite; Undas Anetta

首页> 外文期刊>Thrombosis Research: An International Journal on Vascular Obstruction, Hemorrhage and Hemostasis >Genetic and clinical characterization of congenital fibrinogen disorders in Polish patients: Identification of three novel fibrinogen gamma chain mutations

【24h】

Genetic and clinical characterization of congenital fibrinogen disorders in Polish patients: Identification of three novel fibrinogen gamma chain mutations

机译：波兰患者先天性纤维蛋白原疾病的遗传与临床表征：三种新型纤维蛋白原链条突变的鉴定

获取原文

获取原文并翻译 | 示例

获取外文期刊封面封底 >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

Introduction: Congenital fibrinogen disorders are poorly explored in Slavic populations. The aim of this study was to characterize the genetic background and clinical manifestations of fibrinogen disorders in the Polish case series.

机译：介绍：先天性纤维蛋白原疾病在斯拉夫群中探讨。本研究的目的是在波兰病例系列中表征纤维蛋白原疾病的遗传背景和临床表现。

著录项

来源
《Thrombosis Research: An International Journal on Vascular Obstruction, Hemorrhage and Hemostasis》 |2019年第2019期|共8页
作者
Wypasek Ewa; Klukowska Anna; Zdziarska Joanna; Zawilska Krystyna; Trelinski Jacek; Iwaniec Teresa; Mital Andrzej; Pietrys Danuta; Sydor Wojciech; Neerman-Arbez Marguerite; Undas Anetta;
展开▼
作者单位

John Paul 2 Hosp 80 Pradnicka St PL-31202 Krakow Poland;

Warsaw Med Univ Dept Pediat Hematol &

Oncol Warsaw Poland;

Univ Hosp Krakow Dept Hematol Krakow Poland;

Poznan Univ Med Sci Diagnost &

Treatment Ctr INTERLAB Poznan Poland;

Med Univ Lodz Dept Haemostasis Disorders Lodz Poland;

Jagiellonian Univ Coll Med Dept Internal Med 2 Krakow Poland;

Med Univ Gdansk Dept Hematol &

Transplantol Gdansk Poland;

Childrens Univ Hosp Dept Hematol &

Oncol Krakow Poland;

Jagiellonian Univ Coll Med Dept Internal Med 2 Krakow Poland;

Univ Geneva Fac Med Dept Genet Med &

Dev Geneva Switzerland;

John Paul 2 Hosp 80 Pradnicka St PL-31202 Krakow Poland;

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类神经病学;
关键词
Congenital fibrinogen disorders; Afibrinogenemia; Hypofibrinogenemia; Dysfibrinogenemia; Hypodysfibrinogenemia; Bleeding; Slavic population;

机译：先天性纤维蛋白原;缺氧血症;脱氧血症;脱氧血症;脱近藻血症;低血压纤维增生血症;出血;斯拉夫人口;

相似文献

外文文献
中文文献
专利

1. Genetic and clinical characterization of congenital fibrinogen disorders in Polish patients: Identification of three novel fibrinogen gamma chain mutations [J] . Wypasek Ewa, Klukowska Anna, Zdziarska Joanna, Thrombosis Research: An International Journal on Vascular Obstruction, Hemorrhage and Hemostasis . 2019,第期

机译：波兰患者先天性纤维蛋白原疾病的遗传与临床表征：三种新型纤维蛋白原链条突变的鉴定
2. A case of congenital afibrinogenemia: fibrinogen Hakata, a novel nonsense mutation of the fibrinogen gamma-chain gene. [J] . Iida H, Ishii E, Nakahara M, Thrombosis and Haemostasis: Journal of the International Society on Thrombosis and Haemostasis . 2000,第1期

机译：先天性纤维蛋白原血症：纤维蛋白原博多，纤维蛋白原γ链基因的一个新的无意义突变。
3. Congenital afibrinogenemia: Identification and characterization of two novel homozygous fibrinogen A alpha and B beta chain mutations in two Tunisian families [J] . Amri Yessine, Toumi Nour El Houda, Fredj Sondess Hadj, Thrombosis Research: An International Journal on Vascular Obstruction, Hemorrhage and Hemostasis . 2016,第Null期

机译：先天性纤维蛋白原血症：两个突尼斯家庭中两个新颖的纯合性纤维蛋白原Aα和Bβ链突变的鉴定和表征
4. IDENTIFICATION OF GENE-GENE AND GENE-ENVIRONMENT INTERACTIONS WITHIN THE FIBRINOGEN GENE CLUSTER FOR FIBRINOGEN LEVELS IN THREE ETHNICALLY DIVERSE POPULATIONS [C] . JANINA M.JEFF, KRISTIN BROWN-GENTRY, DANA C.CRAWFORD Pacific Symposium on Biocomputing . 2015

机译：鉴定三种种族多样性群体纤维蛋白原基因簇内的基因 - 基因和基因 - 环境相互作用
5. Interaction of Fibrinogen with Fibronectin: Purification and Characterization of a Room Temperature-Stable Fibrinogen-Fibronectin Complex from Normal Human Plasma. [D] . Ismail, Ayman. 2016

机译：纤维蛋白原与纤连蛋白的相互作用：从正常人血浆中纯化并鉴定室温稳定的纤维蛋白原-纤连蛋白复合物。
6. Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders [O] . Tomas Simurda, Jana Zolkova, Zuzana Snahnicanova, 2018

机译：两个定量纤维蛋白原疾病的斯洛伐克家庭中的两个新型纤维蛋白原Bβ链突变的鉴定。
7. Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders [O] . Tomas Simurda, Jana Zolkova, Zuzana Snahnicanova, 2017

机译：两种具有定量纤维蛋白原异常的斯洛伐克家族中两种新型纤维蛋白原Bβ链突变的鉴定
8. Endothelial Cell Apoptosis Induced by Fibrinogen Gamma Chain C-Terminal Fragment. [R] . Takada, Y., Akakura, N. 2005

机译：纤维蛋白原γ链C末端片段诱导内皮细胞凋亡。

Genetic and clinical characterization of congenital fibrinogen disorders in Polish patients: Identification of three novel fibrinogen gamma chain mutations

摘要

著录项

相似文献

相关主题

期刊订阅