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
Alexandre Buffet,Bruna Calsina,Shahida Flores,Sophie Giraud,Marion Lenglet,Pauline Romanet,Elisa Deflorenne,Javier Aller,Isabelle Bourdeau,Brigitte Bressac-de Paillerets,Maria Calatayud,Caroline Dehais,Erwan De Mones Del Pujol,Atanaska Elenkova,Philippe Herman,Peter Kamenicky,Sophie Lejeune,Jean Louis Sadoul,Anne Barlier,Stephane Richard,Judith Favier,Nelly Burnichon,Betty Gardie,Patricia L. Dahia,Mercedes Robledo,Anne-Paule Gimenez-Roqueplo JOURNAL OF MEDICAL GENETICS（2020）
关键词
von Hippel-Lindau,paraganglioma,cryptic exon
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