Molecular diagnosis of congenital hematological diseases

来源 :第二届中国国际生物微量元素大会 | 被引量 : 0次 | 上传用户:pbsiszx1234567
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
  Congenital anemia encompasses a variety of inherited diseases caused by defects of various genes involved in iron metabolism, heme biosynthesis pathway, hemoglobin synthesis, iron-sulfur cluster biogenesis and transport, mitochondrial metabolism, vitamin metabolism, red cell membrane and skeletal proteins, red cell enzymes and erythropoiesis.Although have been extensively characterized in Caucasian patients, the molecular defects underlie Chinese congenital anemia patients were rarely described.
其他文献
  Iron is an essential metal involved in many fundamental biochemical processes within a living cell or organism.In mammals, ceruloplasmin and hephaestin, two
会议
  There are two general forms of sideroblastic anemia, namely congenital sideroblastic anemia (CSA) and acquired sideroblastic anemia.The CSAs are a group of
会议
  线粒体铁蛋白(mitochondrial ferritin,MtFt)是2001发现的由一个无内含子的基因编码的新蛋白,蛋白前体在细胞质中合成,在信号肽的引导下进入线粒体进行酶切反应,成熟的表
会议
  Background The bodys requirement for iron is different at different developmental stages.However, the molecular mechanisms of age-dependent iron metabolism
会议
  Mutations in the well known superoxide dismutase SOD1 are known to cause familial amyotrophic lateral sclerosis (fALS), a form of neurodegenerative diseases
会议
  阿尔茨海默症(AD)是常发于老年人群的一种慢性神经退行性疾病,主要病理特征为脑内出现老年斑和神经元纤维缠结。目前治疗AD的药物均无显著效果,因此研究AD治疗药物是当前亟
会议
请下载后查看,本文暂不支持在线获取查看简介。 Please download to view, this article does not support online access to view profile.
期刊
亚瑟.李维特的证券交易委员会(SEC)主席一职可能要结束在一场有关美国资本主义最基本问题的交战中:谁有权知道?李维特的辞职信尚未被签署,但他已打定主意在克林顿任期将至之
  阿尔茨海默病(AD),俗称老年痴呆症,是一种老年神经退行性疾病,其病理特征为脑神经细胞间隙有金属离子与淀粉样蛋白聚集形成的老年斑(senile plaques,SP)、细胞内神经纤维
会议
  The major cytoskeletal protein of most cells is actin, which polymerizes to form actin filaments (F-actin).Each actin monomer (G-actin) contains a divalent
会议