alpha 1-Antitrypsin nullGranite Falls, a nonexpressing alpha 1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon.
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چکیده
منابع مشابه
Alpha - 1 - antitrypsin - Pittsburgh A
Alpha-l-antitrypsin-Pittsburgh is a human variant that resulted from a point mutation in the plasma protease inhibitor, a,-antitrypsin (358 Met Arg). This defect in the a,-antitrypsin molecule causes it to have greatly diminished anti-elastase activity but markedly increased antithrombin activity. In this report, we demonstrate that this variant protein also has greatly increased inhibitory act...
متن کاملAlpha 1 antitrypsin deficiency.
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.
متن کاملAlpha- 1 Antitrypsin Deficiency in Children: Pulmonary Involvement
Introduction: α1-antitrypsin deficiency (α1-ATD) is one of the most common genetic disorders in white race, a usual cause of liver disease in children, and hepatopulmonary involvement in children and adult. The aim of this case description is presenting a child with early lung disease without liver parenchymal disorder. Case presentation: We describe a 13 year old boy because of exertional dysp...
متن کاملGene therapy for alpha 1-antitrypsin deficiency.
Alpha 1-antitrypsin deficiency is associated with pulmonary emphysema and liver cirrhosis. The pathogenesis and treatment is reviewed with particular emphasis on gene therapy for emphysema. The technology of gene transfer using viruses and liposomes is developing fast and animal experiments have confirmed the feasibility of gene therapy for alpha 1-antitrypsin deficiency (AATD). So far only sub...
متن کاملAlpha-1-antitrypsin deficiency: a biological enigma.
The association of certain forms of liver disease and a deficiency of alpha-1-antitrypsin is an observation which raises the possibility that other forms of liver disease ultimately will be found to have as their proximate cause a defined metabolic aberration, which may in turn be inherited. Although alpha-1-antitrypsin deficiency is a genetically determined error of protein synthesis, environm...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 1987
ISSN: 0021-9258
DOI: 10.1016/s0021-9258(18)45309-4