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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Dades bibliogràfiques
Publicat a:Hum Mutat
Autors principals: Vocke, Cathy D., Ricketts, Christopher J., Schmidt, Laura S., Ball, Mark W., Middelton, Lindsay A., Zbar, Berton, Linehan, W. Marston
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2021
Matèries:
Research Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8068631/
https://ncbi.nlm.nih.gov/pubmed/33675279
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24194
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