Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*).
第一作者:
Julia K,Bickmann
第一单位:
Institute of Clinical Chemistry and Laboratory Medicine (J.K.B., S.S., K.J.L., H.R.), Institute of Pathology (A.S., E.S.), Department of Endocrinology and Metabolism, I Medical Department (M.M.W., C.F.), Department of Otorhinolaryngology (K.P., D.K., W.J.M.), Department of Endocrine Surgery (T.J.M.), Department of Nuclear Medicine (M.M.), and Institute of Human Genetics (O.B.), University Medical Center Mainz, 55131 Mainz, Germany.
作者:
医学主题词
精氨酸(Arginine);女(雌)性(Female);遗传异质性(Genetic Heterogeneity);疾病遗传易感性(Genetic Predisposition to Disease);生殖细胞系突变(Germ-Line Mutation);颈静脉球瘤(Glomus Jugulare Tumor);头颈部肿瘤(Head and Neck Neoplasms);心脏肿瘤(Heart Neoplasms);人类(Humans);杂合子丢失(Loss of Heterozygosity);腰椎(Lumbar Vertebrae);男(雄)性(Male);膜蛋白质类(Membrane Proteins);中年人(Middle Aged);副神经节瘤(Paraganglioma);表型(Phenotype);危险因素(Risk Factors);脊椎肿瘤(Spinal Neoplasms)
DOI
10.1210/jc.2013-3486
PMID
24423348
发布时间
2014-05-14
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