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Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.

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第一作者： Sakari,Vanharanta

第一单位： Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Finland.

作者： Sakari,Vanharanta ^[1] ; Mary,Buchta ; Sarah R,McWhinney ; Sanna K,Virta ; Mariola,Peçzkowska ; Carl D,Morrison ; Rainer,Lehtonen ; Andrzej,Januszewicz ; Heikki,Järvinen ; Matti,Juhola ; Jukka-Pekka,Mecklin ; Eero,Pukkala ; Riitta,Herva ; Maija,Kiuru ; Nina N,Nupponen ; Lauri A,Aaltonen ; Hartmut P H,Neumann ; Charis,Eng

作者单位： Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Finland. ^[1]

医学主题词青少年(Adolescent);成年人(Adult);发病年龄(Age of Onset);碱基序列(Base Sequence);癌, 肾细胞(Carcinoma, Renal Cell);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);生殖细胞系突变(Germ-Line Mutation);人类(Humans);铁硫蛋白质类(Iron-Sulfur Proteins);肾肿瘤(Kidney Neoplasms);男(雄)性(Male);突变, 误义(Mutation, Missense);副神经节瘤(Paraganglioma);系谱(Pedigree);蛋白质亚单位(Protein Subunits);序列缺失(Sequence Deletion);同胞(Siblings);琥珀酸脱氢酶(Succinate Dehydrogenase)

DOI 10.1086/381054

PMID 14685938

发布时间 2022-04-08

基金项目

R01 HD039058/HD/NICHD NIH HHS/United States NE571/4-1/PHS HHS/United States R01HD39058/HD/NICHD NIH HHS/United States R01HD39058-02S1/HD/NICHD NIH HHS/United States

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