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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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Autor principal: MA Xiao-sen, ZHANG Xue-bin, ZHOU Ting, CUI Yun-ying, TONG An-li
Formato: Artigo
Idioma:Chinês
Publicado em: Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College. 2020-11-01
coleção:Jichu yixue yu linchuang
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Acesso em linha:http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/a200841.pdf
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