De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes
SCN1A 的新生突变是导致关节挛缩的原因,扩大了 SCN1A 相关表型
期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmedgenet-2020-107166
Dana Jaber, Cyril Gitiaux, Sophie Blesson, Florent Marguet, David Buard, Maritzaida Varela Salgado, Anna Kaminska, Julien Saada, Catherine Fallet-Bianco, Jelena Martinovic, Annie Laquerriere, Judith Melki