A mutation at IVS1 + 5 of the von Hippel-Lindau gene resulting in intron retention in transcripts is not pathogenic in a patient with a tongue cancer?: case report

BACKGROUND: Von Hippel-Lindau disease (VHL) is a dominantly inherited familial cancer syndrome predisposing the patient to a variety of malignant and benign neoplasms, most frequently hemangioblastoma, renal cell carcinoma, pheochromocytoma, and pancreatic tumors. VHL is caused by mutations of the V...

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Detalles Bibliográficos
Autores principales: Asakawa, Takeshi, Esumi, Mariko, Endo, Sohei, Kida, Akinori, Ikeda, Minoru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3352036/
https://www.ncbi.nlm.nih.gov/pubmed/22462637
http://dx.doi.org/10.1186/1471-2350-13-23

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3352036/
https://www.ncbi.nlm.nih.gov/pubmed/22462637
http://dx.doi.org/10.1186/1471-2350-13-23

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