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CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.

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第一作者： Forough,Sargolzaeiaval

第一单位： Department of Pathology, University of Washington, Seattle, Washington.

作者： Forough,Sargolzaeiaval ^[1] ; Jiaming,Zhang ^[1] ; Jennifer,Schleit ^[1] ; Davor,Lessel ^[2] ; Christian,Kubisch ^[2] ; Debora R,Precioso ^[3] ; David,Sillence ^[4] ; Fuki M,Hisama ^[5] ; Michael,Dorschner ^[1] ; George M,Martin ^[1] ; Junko,Oshima ^[6]

作者单位： Department of Pathology, University of Washington, Seattle, Washington. ^[1] Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. ^[2] Sarah Network of Rehabilitation Hospitals, Belo Horizonte, Brazil. ^[3] Discipline of Genetic Medicine, Westmead Clinical School, Sydney Faculty of Medicine and Health, Westmead, Australia. ^[4] Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington. ^[5] Department of Pathology, University of Washington, Seattle, Washington.;Department of Clinical Cell Biology and Medicine, Graduate School of Medicine, Chiba University, Chiba, Japan. ^[6]

关键词 CTC1 Mendelian disorders genomic instability molecular genetics progeroid syndrome telomeres

医学主题词成年人(Adult);细胞系(Cell Line);DNA断裂, 双链(DNA Breaks, Double-Stranded);女(雌)性(Female);骨折(Fractures, Bone);鸟嘌呤胞嘧啶富集序列(GC Rich Sequence);基因组不稳定性(Genomic Instability);人类(Humans);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);系谱(Pedigree);表型(Phenotype);蛋白质结合(Protein Binding);端粒(Telomere);端粒结合蛋白质类(Telomere-Binding Proteins);维尔纳综合征(Werner Syndrome)

DOI 10.1002/mgg3.495

PMID 30393977

发布时间 2021-01-09

基金项目

R01 CA210916/CA/NCI NIH HHS/United States

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Molecular genetics & genomic medicine

2018年6卷6期

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Molecular genetics & genomic medicine

2018年6卷6期

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CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.

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CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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