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...
Alpha-1-antitrypsin (Pi) phenotypes have been determined in 40 patients suffering from Down's syndrome. Thirty-six of the patients were found to have a normal M phenotype, whereas two deficient phenotypes of the MS variety were observed. In addition, two M variants were noted. The ...
alpha 1-AntitrypsinPhenotypePolymorphism, GeneticAdultChildPortugalSerum Pi phenotypes were studied in 219 samples. The MM phenotype was the most common as in all other populations. The frequencies of PiS and PiZ were high considering other populations. PiF was not detected....
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...
Place of genotyping in addition to the phenotype and the assay of serum alpha-1 antitrypsin. Ann Biol Clin. 2011;69(5):571–6. https://doi.org/10.1684/abc.2011.0613. Article CAS Google Scholar Silva D, Oliveira MJ, Guimaraes M, Lima R, Gomes S, Seixas S. Alpha-1-antitrypsin (...
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...
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...
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 deficiency (AATD) is a significantly under-diagnosed genetic condition caused by reduced levels and/or functionality of alpha-1 antitrypsin (AAT), predisposing individuals to lung, liver or other systemic diseases. The management of individuals with the PI*MZ genotype, characterized...
Individuals with severe alpha-1-antitrypsin (alpha1AT) deficiency (phenotype Pi ZZ) are abnormally liable to develop emphysema, but it is uncertain whether those with partial alpha1AT deficiency (phenotypes Pi MS and MZ) are similarly susceptible. This study was undertaken to determine the frequenc...