Alpha1-antitrypsin deficiency in Greece: Focus on rare variants.
Papiris SA, Veith M, Papaioannou AI, 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 EM, 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 JF, Vogelmeier CF, Greulich T, Manali ED.
Papiris SA, et al.
Pulmonology. 2024 Jan-Feb;30(1):43-52. doi: 10.1016/j.pulmoe.2022.12.007. Epub 2023 Feb 14.
Pulmonology. 2024.
PMID: 36797151
Free article.
Gene-sequencing (46.7%) detected Q0(GraniteFalls), Q0(Saint-Etienne), Q0(Amersfoort(M1Ala),) M(Wurzburg), N(Hartfordcity) and one novel-variant (c.1A>G) named Q0(Attikon).Heterozygous included PI*MQ0(Amersfoort(M1Ala),) PI*MM(Procida,) PI*Mp....
Gene-sequencing (46.7%) detected Q0(GraniteFalls), Q0(Saint-Etienne), Q0(Amersfoort(M1Ala),) M(Wurzburg), N(Hartfordcity) and one novel-vari …