A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome
GNB2基因中一种新的体细胞突变为Sturge-Weber综合征的发病机制提供了新的见解。
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddab144
Roar Fjær ,Katarzyna Marciniak ,Olav Sundnes ,Hanne Hjorthaug ,Ying Sheng ,Clara Hammarström ,Jan Cezary Sitek ,Magnus Dehli Vigeland ,Paul Hoff Backe ,Ane-Marte Øye ,Johanna Hol Fosse ,Tor Espen Stav-Noraas ,Yuri Uchiyama ,Naomichi Matsumoto ,Anne Comi ,Jonathan Pevsner ,Guttorm Haraldsen ,Kaja Kristine Selmer