In particular, three individuals were found with the ZZ phenotype, which had not yet been observed in Africa.doi:10.1007/BF00402151Guido MassiFabio M. VecchioSpringer-VerlagHuman GeneticsMassi G, Vecchio FM. Alpha-1 antitrypsin phenotypes in a group of newborn infants in Somalia. Hum Genet 1977...
Since the majority of the patients had a normal alpha-1-antitrypsin phenotype, the results of this study indicate that a deficiency in alpha-1-antitrypsin plays no role in the respiratory fragility of individuals with Down's syndrome.Philippe...
DNA polymorphisms of the alpha 1-antitrypsin gene region in patients with chronic obstructive pulmonary disease. Eur J Clin Invest 1990; 20: 1-7.Poller W, Meisen C, Olek K. DNA polymorphisms of the alpha 1-antitryp- sin gene region in patients with chronic obstructive pulmonary disease. Eur...
alpha 1-AntitrypsinGenetic MarkersHepatitis B AntibodiesRiskPhenotypeFemaleMaleThe BJC is owned by Cancer Research UK, a charity dedicated to understanding the causes, prevention and treatment of cancer and to making sure that the best new treatments reach patients in the clinic as quickly as ...
The finding is recorded of typical a1-antitrypsin globules, confirmed by immunofluorescence and immunoperoxidase methods, in the hepatocytes of a patient shown to have a normal serum antitrypsin level and normal phenotype (TiM) for a1-antitrypsin. The identification of such globules can no longer be...
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...
Deficiency of α1-antitrypsin allows neutrophil elastase to destroy the alveolar wall's connective tissue, resulting in emphysema.75 The phenotype for the α1-antitrypsin gene can be assessed.76 Heterozygous phenotypes usually do not manifest clinical liver disease,4 although hepatomegaly, spider nevi...
NP cells are rounded, “chondrocyte-like” morphology; however, it has distinct phenotype and characteristics compared with chondrocytes [5]. α1-antitrypsin (AAT) was discovered in the mid-1950s but only came to prominence in 1963. It was identified as a potent serine protease inhibitor [6]...
Alpha-1-antitrypsin concentration was ana- (9) demonstrated that intact proteases are absorbed from the lyzed by lostrum ( inm=m3u)naoneldecotfrompahtourreesmis ilink samples of human co- from mothers between intestinal tract of newborn rabbits. They postulated that the unopposed entry of ...
How many of the patient with abnormal allele will actually develop the liver disease according to the phenotype? More than 90 phenotypic variants of alpha1-antitrypsin deficiency have been identified, but one phenotype, PiZZ, is responsible for nearly all cases of AAT deficiency emphysema and liver...