Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency.
نویسندگان
چکیده
Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency I Ferrarotti, J Baccheschi, M Zorzetto, C Tinelli, L Corda, B Balbi, I Campo, E Pozzi, G Faa, P Coni, G Massi, G Stella, M Luisetti . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
منابع مشابه
LETTER TO JMG Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency
Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency I Ferrarotti, J Baccheschi, M Zorzetto, C Tinelli, L Corda, B Balbi, I Campo, E Pozzi, G Faa, P Coni, G Massi, G Stella, M Luisetti . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ....
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In 1997, the World Health Organization recommended establishing an international registry of alpha1-antitrypsin deficiency. The objective of the present article is to describe the organisation of an international network of registries, the Alpha One International Registry (AIR), and the processes of enrolling and entering data. By the end of 2005, the registry included individuals from 21 count...
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BACKGROUND Alpha-1-antitrypsin (alpha1-AT) is an important protease inhibitor. The phenotypes are characterized by a low total serum alpha1-AT or by an abnormal protein accumulating in the hepatocytes. The aim of our study was to examine a correlation of total serum alpha1-AT, phenotype, and liver involvement in pediatric patients. METHODS 48 patients, deficient for alpha1-AT were included. T...
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Alpha 1-antitrypsin (AAT) or alpha 1-protease inhibitor (PI) is the principal inhibitor of proteolytic enzyme in serum. Its phenotypic variability has been reported to be associated with liver, lung diseases and rheumatoid arthritis in humans. There is much documentation about high risk phenotypes of PI in some regions of the world, however, there are no reliable reports on these phenotypes and...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 42 3 شماره
صفحات -
تاریخ انتشار 2005