Synonymous mutations in von-Hippel Lindau gene cause familial pheochromocytoma
Objective This is a case report of family with VHL disease caused by a rare synonymous mutation of VHL gene and then the frequency of the mutation in pheochromocytoma/paraganglioma (PPGL) was investigated. Methods Genomic DNA was extracted from the peripheral blood of proband and his families. The...
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| Format: | Article |
| Language: | zho |
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Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College.
2020-11-01
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| Series: | Jichu yixue yu linchuang |
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| Online Access: | http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/a200841.pdf |