Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort
开发一种功能性检测方法,用于表征法国出血性遗传性毛细血管扩张症队列中的SMAD4变异体
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2025-110797
Despas, Louane; Vialet, Lea; Tusseau, Maud; Azemard, Valentin; Beurier-Soulat, Lea; Al Tabosh, Tala; Auboiroux, Celine; Parrot, Antoine; Blivet, Sandra; Le Guillou Horn, Xavier Maximin; Lesca, Gaetan; Dufernez, Fabienne; Coulet, Florence; Richardot, Charlotte; Macias, Maria; Giraud, Sophie; Guilhem, Alexandre; Dupuis-Girod, Sophie; Bailly, Sabine; Desroches-Castan, Agnes