Evidence for genetic anticipation in vonHippel-Lindau syndrome.-论文-万方医学网

作者： Laura,Aronoff ^[1] ; David,Malkin ^[2] ; Kalene,van Engelen ^[1] ; Bailey,Gallinger ^[3] ; Jonathan,Wasserman ^[4] ; Raymond H,Kim ^[5] ; Anita,Villani ^[3] ; M Stephen,Meyn ^[1] ; Harriet,Druker ^[3]

作者单位： Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Canada. ^[1] Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada. ^[2] Genetics and Genome Biology Program, The Hospital for Sick Children Research Institute, Toronto, Canada. ^[3] Department of Paediatrics, University of Toronto, Toronto, Canada. ^[4] Department of Medical Biophysics, University of Toronto, Toronto, Canada. ^[5] Department of Molecular Genetics, University of Toronto, Toronto, Canada. ^[6] Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Canada. ^[7] Division of Endocrinology, The Hospital for Sick Children, Toronto, Canada. ^[8] Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada. ^[9] Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, Toronto, Canada. ^[10] Department of Medicine, University of Toronto, Toronto, Canada. ^[11]

主题词青少年(Adolescent);成年人(Adult);早现, 遗传(Anticipation, Genetic);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);流式细胞术(Flow Cytometry);疾病遗传易感性(Genetic Predisposition to Disease);粒细胞(Granulocytes);杂合子(Heterozygote);人类(Humans);原位杂交, 荧光(In Situ Hybridization, Fluorescence);婴儿(Infant);杀伤细胞, 天然(Killer Cells, Natural);男(雄)性(Male);系谱(Pedigree);端粒(Telomere);脑视网膜血管瘤抑制蛋白质(Von Hippel-Lindau Tumor Suppressor Protein);青年人(Young Adult);von Hippel-Lindau病(von Hippel-Lindau Disease)

DOI 10.1136/jmedgenet-2017-104882

PMID 29437867

发布时间 2019-09-16

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Evidence for genetic anticipation in vonHippel-Lindau syndrome.

Journal of medical genetics

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Journal of medical genetics

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Evidence for genetic anticipation in vonHippel-Lindau syndrome.

Journal of medical genetics

相似文献

Journal of medical genetics

相关期刊

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