A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm.
第一作者:
Tiia M,Luukkonen
第一单位:
Institute for Molecular Medicine Finland FIMM, Helsinki, Finland.
作者:
主题词
肌动蛋白类(Actins);主动脉瘤, 胸(Aortic Aneurysm, Thoracic);染色体断裂(Chromosome Breakage);染色体图(Chromosome Mapping);染色体, 人, 10对(Chromosomes, Human, Pair 10);染色体, 人, 11对(Chromosomes, Human, Pair 11);DNA拷贝数变异(DNA Copy Number Variations);家庭(Family);芬兰(Finland);GPI连接蛋白质类(GPI-Linked Proteins);基因频率(Gene Frequency);基因, 显性(Genes, Dominant);基因型(Genotype);人类(Humans);颅内动脉瘤(Intracranial Aneurysm);核型分析(Karyotyping);神经细胞黏附分子类(Neural Cell Adhesion Molecules);系谱(Pedigree);试点项目(Pilot Projects);登记(Registries);易位, 遗传(Translocation, Genetic)
DOI
10.1136/jmedgenet-2012-100977
PMID
23054244
发布时间
2021-10-21
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