Article
Alpha1-antitrypsin deficiency in Greece: Focus on rare variants.
Pulmonology - 1 Jan 2000
Papiris S A, Veith M, Papaioannou A I, Apollonatou V, Ferrarotti I, Ottaviani S, Tzouvelekis A, Tzilas V, Rovina N, Stratakos G, Gerogianni I, Daniil Z, Kolilekas L, Dimakou K, Pitsidianakis G, Tzanakis N, Tryfon S, Fragopoulos F, Antonogiannaki E M, Lazaratou A, Fouka E, Papakosta D, Emmanouil P, Anagnostopoulos N, Karampitsakos T, Vlami K, Kallieri M, Lyberopoulos P, Loukides S, Bouros D, Bush A, Balduyck M, Lombard C, Cottin V, Mornex J F, Vogelmeier C F, Greulich T, Manali E D
Abstract excerpt
PURPOSE: A1Antitrypsin deficiency (AATD) pathogenic mutations are expanding beyond the PI*Z and PI*S to a multitude of rare variants. AIM: to investigate genotype and clinical profile of Greeks with AATD. METHODS: Symptomatic adult-patients with early-emphysema defined by fixed airway obstruction and computerized-tomography scan and lower than normal serum AAT levels were enrolled from reference centers all over...
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