Each type 1 collagen molecule contains three subunits, two are identical (the alpha 1 chains) and the sequence of the third (alpha 2) is very similar. They are encoded at the non-synthenic loci, COL1A1 and COL1A2 and restriction site dimorphisms have been described at each locus. ...
Those that consented to the study were subjected to a standardized questionnaire and have their Alpha-1-Antitrypsin level and genotype determined by the AlphaKit.Eleven patients, between the ages of 14 - 17 with a mean age of 16, participated in the study. They were all tall and thin and ...
DNA polymorphisms of the alpha 1-antitryp- sin gene region in patients with chronic obstructive pulmonary disease. Eur J Clin Invest. 1990;20:1-7. [PMID: 1969347]Poller W, Meison C, Olek K. DNA polymorphisms of the α1-antitrypsin gene region in patients with chronic obstructive pulmonary ...
Stoller JK. Clinical manifestations, diagnosis, and natural history of alpha-1 antitrypsin deficiency. In: Barnes PJ, ed. UpToDate. Updated July 7, 2021. Accessed September 27, 2021.https://www.uptodate.com/contents/clinical-manifestations-diagnosis-and-natural-history-of-alpha-1-antitrypsin-deficie...
Alpha-1-antitrypsin (α1-AT) deficiency is mainly evaluated in the diagnostic process of chronic obstructive pulmonary disease (COPD). Around 95% of individuals with severe α1-AT deficiency carry the PI*ZZ genotype. Little is known about the epidemiology of the remaining deficient α1-AT varia...
Serum-trypsin-inhibitory-capacity (STIC) and ai-antitrypsin (AAT) genotypes were evaluated in 83 twins and 112 paired parents-of-twins. An increased prevalence (17.0–21.9%) of intermediate AAT deficiency (STIC < 0.95 units/ml) was detected in both of these groups as compared to a prevalence...
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 (AATD, OMIM #613490) is a rare metabolic disorder affecting lungs and liver. The purpose of this study is to assess the impact of the US orphan drug act on AATD by providing a quantitative clinical-regulatory insight into the status of FDA orphan drug approval...
Alpha1-antitrypsin deficiency is an inherited pulmonary disorder which results from a deficiency of a major plasma protease inhibitor. The onset and severity of symptoms vary widely and depend on the genotype and whether the patient smokes cigarettes. Alpha1-antitrypsin in pregnancy has only been pre...
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...