Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis
基因检测和遗传性转甲状腺素蛋白淀粉样变性热点区域的创始突变证据
期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-14707-4
Ventayol-Guirado, Marc; Cisneros-Barroso, Eugenia; Ribot-Sanso, Maria Antonia; Gonzalez-Moreno, Juan; Losada, Ines; Ripoll-Vera, Tomas; Pons, Jaume; Fortuny, Elena; Bosch, Teresa; Figuerola, Antonio; Descals, Cristina; Montala, Joan Carles; Alvarez-Rubio, Jorge; Hernandez-Rodriguez, Jessica; Lustre-Rodriguez, Jose; Llull-Alberti, Maria Victoria; Jimenez-Barcelo, Juan Antonio; Asensio-Landa, Victor Jose; Torres-Juan, Laura; Martinez-Lopez, Iciar; Buades-Reines, Juan; Heine-Suñer, Damian