Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
致病性和非致病性FGF14重复序列扩增的鉴定和表征
期刊:Nature Communications
影响因子:15.7
doi:10.1038/s41467-024-52148-1
Mohren, Lars; Erdlenbruch, Friedrich; Leitão, Elsa; Kilpert, Fabian; Hönes, G Sebastian; Kaya, Sabine; Schröder, Christopher; Thieme, Andreas; Sturm, Marc; Park, Joohyun; Schlüter, Agatha; Ruiz, Montserrat; Morales de la Prida, Moisés; Casasnovas, Carlos; Becker, Kerstin; Roggenbuck, Ulla; Pechlivanis, Sonali; Kaiser, Frank J; Synofzik, Matthis; Wirth, Thomas; Anheim, Mathieu; Haack, Tobias B; Lockhart, Paul J; Jöckel, Karl-Heinz; Pujol, Aurora; Klebe, Stephan; Timmann, Dagmar; Depienne, Christel