Intronic mutation of the VHL gene associated with central nervous system hemangioblastomas in two Chinese families with Von Hippel-Lindau disease: case report
Abstract Background Central nervous system (CNS) hemangioblastomas are the most frequent cause of mortality in patients with Von Hippel-Lindau (VHL) disease, an autosomal dominant genetic disease resulting from germline mutations in the VHL tumor suppressor gene, with most mutations occurring in the...
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| Автори: | , , , , , , |
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| Формат: | Книга |
| Опубліковано: |
BMC,
2020-10-01T00:00:00Z.
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| Шифр: |
A1234.567 |
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| Примірник 1 | Доступно |