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DNA restriction fragments associated with α1-antitrypsin indicate a single origin for deficiency allele PI Z

Nature, 1985
The alpha 1-protease inhibitor, or alpha-antitrypsin (AAT), a major plasma inhibitor of leukocyte elastase and bacterial proteases, is encoded at the PI locus on chromosome 14 (14q24.3-q32.1). A deficiency of AAT in individuals homozygous for the PI Z allele occurs in about 1 in 2,000-8,000 caucasians and is associated with an increased risk of early ...
D W, Cox, S L, Woo, T, Mansfield
openaire   +2 more sources

High-Speed Detection of α1-Antitrypsin Deficiency Alleles Pi*S and Pi*Z on the LightCycler

2001
Protease inhibitor 1 (αl-antitrypsin, AT) is the main serum inhibitor of proteolytic enzymes. In AT-deficiency, enzymes such as neutrophil elastase can damage the lung tissues, leading to pulmonary emphysema. More than 90 different alleles have been identified so far for the protease inhibitor 1 (PI) gene.
Charalampos Aslanidis, Gerd Schmitz
openaire   +1 more source

Absence of the alpha-1-antitrypsin PI*Z allele in Tunisia substantiates the particular genetic structure of African populations

American Journal of Human Biology, 1997
Alpha-1-antitrypsin (PI) phenotypes were studied in a sample of 450 Tunisians. The observed frequencies of PI alleles were identical to those in African populations, with a very low incidence of PI*S and virtual absence of PI*Z. Such figures are similar to estimates in Asians and clearly opposite to those in Europeans. Am. J. Hum. Biol. 9:223-224, 1997.
S, Makni   +8 more
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Familial alpha-1-antitrypsin dificiency with Pi-Z and a new Pi-Gcler variant.

Biomedicine / [publiee pour l'A.A.I.C.I.G.], 1981
A case of familial deficiency in alpha-1-antitrypsin connected with Pi-0Z gene led to the finding of a new Gcler variant partly deficient, the electrofocusing pattern of which, located between that of G and I variants, was modified after neuraminidase digestion.
M P, Plazonnet   +3 more
openaire   +1 more source

Sa1540 THE IMPACT OF A1-ANTITRIPSIN DEFICIENCY AND PI*Z ALLELE IN LIVER FIBROSIS

Gastroenterology, 2023
Ana Isabel Ferreira   +6 more
openaire   +1 more source

Vlastela grada Dubrovnika 6. Odabrane biografije (Pi - Z)

2015
Knjiga obuhvaća biografije značajnih pripadnika dubrovačkih vlasteoskih rodova od slova Pi do Z.
openaire   +1 more source

Výpočet čísla .pi. z obvodů pravidelných mnohoúhelníků, 1. část

2005
We consider the method of calculation of the number .pi. by Archimedes and its refinement by Christian Huygens.
openaire   +1 more source

Clinical, epidemiologic, and pulmonary function studies in alpha,-antitrypsin-deficient subjects of Pi Z type.

The American review of respiratory disease, 1977
The results of pulmonary function testing and systematic medical history and epidemiologic data collection are reported for 20 persons with alpha 1-antitrypsin deficiency of Pi Z phenotype. The most common symptom, reported in 19 subjects (95 per cent), was dyspnea on exertion; 16 subjects (80 per cent) gave a history of wheezing, and 8 (40 percent ...
W, Rawlings   +6 more
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Alpha-1-Antitrypsin Deficiency PI*Z Genotype Distribution in the USA.

B62. ALPHA-1 ANTITRYPSIN: MOLECULAR, EPIDEMIOLOGICAL, AND CLINICAL FEATURES IN 2009, 2009
A Tonelli   +7 more
openaire   +1 more source

PCR genotyping of the two common alpha1 antitrypsine deficiency alleles Pi Z and Pi S

1997
alpha1-antitrypsin is important protease inhibitor . The gene is located on chromosome 14. Some deficiency alleles are associated with low levels of alpha1-antitrypsin in serum and can either be linked to liver disease and/or to early onset emphysema. The most common deficiency allele are Pi Z (single base substitution in exon 5) and Pi S (single base ...
Štefanović, Mario   +2 more
openaire   +1 more source

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