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

BACKGROUNDS: The 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. METHODS: We studied a large international multicentre cohort...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Med Genet
Prif Awduron: 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, Gimenez-Roqueplo, Anne-Paule
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 2020
Pynciau:
Cancer Genetics
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7387210/
https://ncbi.nlm.nih.gov/pubmed/31996412
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106519
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