Alpha-1-antitrypsin (α1AT) is a protease inhibitor, the deficiency of which is associated with premature emphysema and a wide spectrum of liver disease. This protein is a small glycoprotein that migrates electrophoretically with the α1-globulin fraction of serum. Alpha-1-antitrypsin is a ...
佳学基因的Alpha-1抗胰蛋白酶缺乏症(Alpha-1 antitrypsin deficiency)致病基因鉴定基因解码项目通过全外显子测序获得基因序列是如何增加检出率和正确性的? 佳学基因的Alpha-1抗胰蛋白酶缺乏症基因解码项目通过全外显子测序可以增加检出率和正确性,具体原因如下: 1. 检出率提高:全外显子测序可以同时检测所有外显子区...
Alpha-1-antitrypsinProteaseAntiproteaseLiver diseaseChronic obstructive pulmonary disease (COPDTwo disparate disease states—an adult form of emphysema and a childhood form of liver cirrhosis—have been linked to an inherited absence of this antienzyme. In their severe, homozygous forms, both conditions...
genetic model of alpha-1-antitrypsin deficiency. chinese.eurekalert.org 圣路易大学儿童医学系塔克曼博士(Jeffrey Teckma)所领导的研究团队,证实了甲一型胰蛋白酵素抑 制剂 缺陷 动 物模 式中有氧化压力的产生。 chinese.eurekalert.org [...] and registered as having originated from the Liberian Camp ...
Alpha-1-antitrypsin deficiency (AATD) is a rare genetic disorder associated with the development of liver and lung disease. AAT is a 52-kD glycoprotein, produced mainly by hepatocytes and secreted into the blood. Agglomeration of the AAT-protein in hepatocytes can result in liver disease. Exposur...
Alpha-1 antitrypsin deficiency (AAT deficiency) is an inherited condition that raises your risk for lung and liver disease. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver makes it. If the AAT proteins aren't the right shape, they get stuck in the liver cells ...
英文: Metabolic diseases such as Wilson\'s disease, hemochromatosis, and alpha 1 - antitrypsin deficiency can lead to liver damage.中文: 代谢性疾病,如威尔逊氏病,血色沉着,α-1型胰岛素缺乏症均可导致肝损伤。英文: Alpha 1-antitrypsin Matrix Attachment Region Enhances RNA PolymeraseⅡ-dependent ...
- 《Hepatology》 被引量: 674发表: 1998年 Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy. J Clin Invest. 1990 May;85(5):1343-52. Review RG Crystal - 《Journal of Clinical Investigation》 被引量: 617发表: 1990年 加载更多...
Alpha-1 antitrypsin(抗胰蛋白酶) deficiency is a genetic disorder(遗传病) in which a protein called alpha-1 antitrypsin is defective or absent, and it causes lung and liver disease. α抗胰蛋白酶缺乏症是一种遗传性疾病,患者体内的一种叫做α抗胰蛋白酶的蛋白质出现了问题或者含量减少了,最终导致肺...
Alpha-1-Antitrypsin Deficiency Alpha1-antitrypsin is a normal component of human serum. Quantitative and qualitative variations from normal and methods of measurement are discussed. Seve... John B. Henry,Woodward Burgert JR - 《Thorax》 被引量: 491发表: 1972年 Neonatal screening for alpha1-...