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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Detaylı Bibliyografya
Yayımlandı:J Med Genet
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Publishing Group 2020
Konular:
Cancer Genetics
Online Erişim: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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