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
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-04142-z
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