Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing

BACKGROUND: von Hippel-Lindau (VHL) disease is a familial neoplasia syndrome that results from the germline mutation of VHL. Pathogenic VHL mutations include deletion, frameshift, nonsense and missense mutations. Synonymous mutations are expected to be phenotypically silent and their role in VHL dis...

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Detalles Bibliográficos
Autores principales: Liu, Fang, Calhoun, Barbara, Alam, Md. Suhail, Sun, Miaomiao, Wang, Xuechun, Zhang, Chao, Haldar, Kasturi, Lu, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045488/
https://www.ncbi.nlm.nih.gov/pubmed/32106822
http://dx.doi.org/10.1186/s12881-020-0976-7

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