Mahadeva R., Lomas D.A. Genetics and respiratory disease* 2: Alpha 1 antitrypsin deficiency, cirrhosis and emphysema. Thorax. 1998; 53 :501–505.Mahadeva R, Lomas DA. Genetics and respiratory disease, 2: Alpha 1-antitrypsin deficiency, cirrhosis and emphysema. Thorax 1998;53:501-505....
Alpha-1 Antitrypsin Deficiency: Current Perspective from Genetics to Diagnosis and Therapeutic ApproachesAlpha-1 antitrypsinchronic obstructive pulmonarydiseasegenetic variantsliver diseaseneutrophil elastasepolymersserine protease inhibitor superfamily (SERPIN)...
Alpha-1 antitrypsin deficiency is an autosomal co-dominant disorder caused by mutations of the highly polymorphic SERPINA1 gene. This genetic disorder still remains largely under-recognized and can be associated with lung and/or liver injury. The laboratory testing for this deficiency typically comprises...
the application of clinical genetics dovepress alpha 1 -antitrypsin deficiency: a clinical-genetic overview To provide a review of alpha1-antitrypsin deficiency (AATD), alpha1-antitrypsin (AAT) augmentation, and the recommendations for timely recognition and trea... RT Abboud,TN Nelson,B Jung,.....
Alpha1-antitrypsin deficiency (AATD) was first described by Laurell and Eriksson in 1963. Laurell noted the absence of the band of alpha1- protein in 5 of 1500 serum protein electrophoreses (SPEP) submitted to his laboratory in Sweden.
AAT deficiency was determined, using the Grifols AlphaKit test kits processed at the Alpha-1 Antitrypsin Genetics Laboratory at GeneAidyx LLC (Alachua, Florida), by assessing low serum levels, followed by genotyping, phenotyping and sequencing. Written and informed consent was obtained from all ...
MedlinePlus: National Library of Medicine. Alpha-1 antitrypsin deficiency. Updated September 15, 2021. Accessed September 28, 2021.https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency National Heart, Lung, and Blood Institute. Bronchiectasis. Date unknown. Accessed September 27, 20...
Alpha1-antitrypsin deficiency (AATD) was first described by Laurell and Eriksson in 1963. Laurell noted the absence of the band of alpha1- protein in 5 of 1500 serum protein electrophoreses (SPEP) submitted to his laboratory in Sweden.
Alpha-1-antitrypsin deficiency (AAT deficiency) is one of the most common serious hereditary disorders in the world because it affects all major racial subgroups worldwide and there are at least 120.5 million carriers and deficient subjects worldwide. This genetic disease is related to a high risk...
A point mutation in the 3' flanking sequence of the alpha-1-antitrypsin gene is associated with chronic respiratory disease. This study demonstrates that t... Morgan,Scobie,N A,... - 《Human Molecular Genetics》 被引量: 38发表: 1993年 New Insights into the Biology of 1-Antitrypsin and it...