Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles.

doi:10.4081/monaldi.2005.630

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Article

Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles.

Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace - 1 Sept 2005

de Serres F J, Luisetti M, Ferrarotti I, Blanco I, Fernández-Bustillo E

Abstract excerpt

BACKGROUND: Critical to the effective diagnosis and management of disease is information on its prevalence in a particular geographic area such as Italy. Alpha-1 antitrypsin deficiency (AAT Deficiency) is one of the most common serious hereditary diseases in the world, but its prevalence varies markedly from one country to another. AAT Deficiency affects at least 120.5 million carriers and deficient subjects...

Topics

Alleles
CDP-Diacylglycerol-Inositol 3-Phosphatidyltransferase
Cohort Studies
Gene Frequency
Humans
Italy
Membrane Proteins
Prevalence
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency

Source

Open in PubMed

Identifiers

PMID: 16312203
DOI: 10.4081/monaldi.2005.630

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