日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The phenotypic state of biallelic SERPINA1 Q0 variants in α(1)-antitrypsin deficiency

α(1)-抗胰蛋白酶缺乏症中双等位基因SERPINA1 Q0变异体的表型状态

Papiris, Spyros A; Veith, Martina; Ferrarotti, Ilaria; Balduyck, Malika-Leila; Filosa, Asia; Papaioannou, Andriana I; Lombard, Christine; Ottaviani, Stefania; Rovina, Nikoletta; Kolilekas, Lykourgos; Zerimech, Farid; Odou, Marie-Françoise; Dechomet, Magali; Prountzos, Spyridon; Kontopoulou, Christina; Kallieri, Maria; Cuvelier, Antoine; le Rouzic, Olivier; Apollonatou, Vasiliki; Antonogiannaki, Elvira-Markela; Osaba, Lourdes; Entrena, Edurne; Traclet, Julie; Weisenburger, Gaelle; Cottin, Vincent; Vogelmeier, Claus; Greulich, Timm; Monti, Maria Cristina; Mornex, Jean-François; Manali, Effrosyni D

Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact

对一种携带两个错义突变的新型SERPINA1变体的特征分析:分子机制和功能影响

Leon, Celine; Odou, Marie-Françoise; Roquelaure, Bertrand; Lebreton, Louis; Ruiz, Mathias; Schneider, Carolin Victoria; Renoux, Celine; Evrard, Aurélie; Balduyck, Malika; Dechomet, Magali; Lombard, Christine; Butori-Pepino, Mathilde; Schneider, Kai Markus; Marin, Victor; di-Tomasso, Sylvaine; Dourthe, Cyril; Dupuy, Jean-William; Raymond, Anne-Aurélie; Collardeau-Frachon, Sophie; Haffner, Aurélie; Fritih, Radia; Goubert, Emmanuelle; Geromel, Vanna; Joly, Philippe; Fabre, Alexandre; Bouchecareilh, Marion