Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma
患有冯·希佩尔-林道病谱系肿瘤或副神经节瘤的患者中 VHL 基因新 E1' 隐秘外显子的种系突变
期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmedgenet-2019-106519
Alexandre Buffet, Bruna Calsina #, Shahida Flores #, Sophie Giraud #, Marion Lenglet #, Pauline Romanet, Elisa Deflorenne, Javier Aller, Isabelle Bourdeau, Brigitte Bressac-de Paillerets, María Calatayud, Caroline Dehais, Erwan De Mones Del Pujol, Atanaska Elenkova, Philippe Herman, Peter Kamenický,