Germline mutations in the new E1’ cryptic exon of the VHL gene in patients with tumours of von Hippe...
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
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Author / Creator
Buffet, Alexandre , Calsina, Bruna , Flores, Shahida , Giraud, Sophie , Lenglet, Marion , Romanet, Pauline , Deflorenne, Elisa , Aller, Javier , Bourdeau, Isabelle , Bressac-de Paillerets, Brigitte , Calatayud, María , Dehais, Caroline , De Mones Del Pujol, Erwan , Elenkova, Atanaska , Herman, Philippe , Kamenický, Peter , Lejeune, Sophie , Sadoul, Jean Louis , Barlier, Anne , Richard, Stephane , Favier, Judith , Burnichon, Nelly , Gardie, Betty , Dahia, Patricia L , Robledo, Mercedes and Gimenez-Roqueplo, Anne-Paule
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
BackgroundsThe incidence of germline mutations in the newly discovered cryptic exon (E1’) of VHL gene in patients with von Hippel-Lindau (VHL) disease and in patients with paraganglioma or pheochromocytoma (PPGL) is not currently known.MethodsWe studied a large international multicentre cohort of 1167 patients with a previous negative genetic testi...
Alternative Titles
Full title
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
Authors, Artists and Contributors
Author / Creator
Calsina, Bruna
Flores, Shahida
Giraud, Sophie
Lenglet, Marion
Romanet, Pauline
Deflorenne, Elisa
Aller, Javier
Bourdeau, Isabelle
Bressac-de Paillerets, Brigitte
Calatayud, María
Dehais, Caroline
De Mones Del Pujol, Erwan
Elenkova, Atanaska
Herman, Philippe
Kamenický, Peter
Lejeune, Sophie
Sadoul, Jean Louis
Barlier, Anne
Richard, Stephane
Favier, Judith
Burnichon, Nelly
Gardie, Betty
Dahia, Patricia L
Robledo, Mercedes
Gimenez-Roqueplo, Anne-Paule
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7387210
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7387210
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2019-106519
