Familial aortic disease and a large duplication in chromosome 16p13.1.

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作者： Philipp,Erhart ^[1] ; Tobias,Brandt ^[2] ; Beate K,Straub ^[3] ; Ingrid,Hausser ^[4] ; Sabine,Hentze ^[3] ; Dittmar,Böckler ^[5] ; Caspar,Grond-Ginsbach ^[1]

作者单位： Department of Vascular and Endovascular Surgery, University Hospital Heidelberg, Heidelberg, Germany. ^[1] Suva/Swiss National Accident Insurance Fund, Lucerne, Switzerland. ^[2] Department of Pathology, University Hospital Heidelberg, Heidelberg, Germany. ^[3] Department of Pathology, University Medicine Mainz, Mainz, Germany. ^[4] Human genetical practice, Heidelberg, Germany. ^[5] Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany. ^[6]

关键词 cosegregation duplication 16p13.1 familial thoracic aortic aneurysm and dissection whole exome sequencing

主题词成年人(Adult);老年人(Aged);主动脉(Aorta);主动脉瘤, 胸(Aortic Aneurysm, Thoracic);主动脉疾病(Aortic Diseases);染色体结构(Chromosome Structures);染色体, 人, 16对(Chromosomes, Human, Pair 16);数据库, 遗传学(Databases, Genetic);家庭(Family);女(雌)性(Female);基因复制(Gene Duplication);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);系谱(Pedigree);表型(Phenotype)

DOI 10.1002/mgg3.371

PMID 29441698

发布时间 2023-09-26

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Molecular genetics & genomic medicine

2018年6卷3期

441-445页

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Familial aortic disease and a large duplication in chromosome 16p13.1.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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Familial aortic disease and a large duplication in chromosome 16p13.1.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

相关期刊

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