A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients.-论文-万方医学网

作者： Gara Samara,Brajadenta ^[1] ; Frédéric,Bilan ^[2] ; Brigitte,Gilbert-Dussardier ^[1] ; Alain,Kitzis ^[3] ; Vincent,Thoreau ^[1]

作者单位： Neurovascular Unit and Cognitive Disorders (EA-3808 NEUVACOD), Université de Poitiers, Poitiers, France. ^[1] Department of Medical Biology, Division of Human Genetics, Faculty of Medicine, University of Swadaya Gunung Jati, Cirebon, Indonesia. ^[2] Department of Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France. ^[3] Neurovascular Unit and Cognitive Disorders (EA-3808 NEUVACOD), Université de Poitiers, Poitiers, France. vincent.thoreau@univ-poitiers.fr. ^[4]

主题词青少年(Adolescent);氨基酸序列(Amino Acid Sequence);碱基序列(Base Sequence);CHARGE综合征(CHARGE Syndrome);儿童(Child);染色质(Chromatin);DNA解旋酶类(DNA Helicases);DNA, 核糖体(DNA, Ribosomal);DNA结合蛋白质类(DNA-Binding Proteins);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);遗传变异(Genetic Variation);人类(Humans);婴儿(Infant);分化抑制蛋白2(Inhibitor of Differentiation Protein 2);男(雄)性(Male);膜蛋白质类(Membrane Proteins);SOXC转录因子类(SOXC Transcription Factors);SOXE转录因子类(SOXE Transcription Factors);转录因子(Transcription Factors);毒力(Virulence)

DOI 10.1038/s41431-019-0465-7

PMID 31289371

发布时间 2021-01-10

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A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients.

European journal of human genetics

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European journal of human genetics

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A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients.

European journal of human genetics

相似文献

European journal of human genetics

相关期刊

检索历史清除