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Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome
Patients with intragenic mutations of the VHL gene have a typical disease presentation. However in cases of large VHL gene deletions which involve other genes in the proximity of the VHL gene a presentation of the disease can be different. To investigate whether large VHL deletions that remove the F...
Autores principales: | Krzystolik, Karol, Jakubowska, Anna, Gronwald, Jacek, Krawczyński, Maciej R, Drobek-Słowik, Monika, Sagan, Leszek, Cyryłowski, Leszek, Lubiński, Wojciech, Lubiński, Jan, Cybulski, Cezary |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4120008/ https://www.ncbi.nlm.nih.gov/pubmed/25093046 http://dx.doi.org/10.1186/1897-4287-12-16 |
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