Comprehensive characterization of Alu‐mediated breakpoints in germline VHL gene deletions and rearrangements in patients from 71 VHL families

Von Hippel‐Lindau (VHL) is a hereditary multisystem disorder caused by germline alterations in the VHL gene. VHL patients are at risk for benign as well as malignant lesions in multiple organs including kidney, adrenal, pancreas, the central nervous system, retina, endolymphatic sac of the ear, epid...

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Detalles Bibliográficos
Autores principales: Vocke, Cathy D., Ricketts, Christopher J., Schmidt, Laura S., Ball, Mark W., Middelton, Lindsay A., Zbar, Berton, Linehan, W. Marston
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8068631/
https://www.ncbi.nlm.nih.gov/pubmed/33675279
http://dx.doi.org/10.1002/humu.24194

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8068631/
https://www.ncbi.nlm.nih.gov/pubmed/33675279
http://dx.doi.org/10.1002/humu.24194

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