Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease.-论文-万方医学网

作者： H,Flusser ^[1] ; D,Halperin ^[2] ; R,Kadir ^[2] ; Z,Shorer ^[3] ; I,Shelef ^[4] ; O S,Birk ^[2]

作者单位： Zussman Child Development Center, Division of Pediatrics, Soroka Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel. ^[1] The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel. ^[2] Pediatric Neurology Unit, Division of Pediatrics, Soroka Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel. ^[3] Department of Imaging, Soroka Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel. ^[4] Genetics Institute, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel. ^[5]

主题词等位基因(Alleles);脑(Brain);夏科-马里-图斯病(Charcot-Marie-Tooth Disease);染色体图(Chromosome Mapping);计算生物学(Computational Biology);数据库, 遗传学(Databases, Genetic);女(雌)性(Female);遗传关联研究(Genetic Association Studies);基因连锁(Genetic Linkage);疾病遗传易感性(Genetic Predisposition to Disease);全基因组关联研究(Genome-Wide Association Study);人类(Humans);细胞内信号肽和蛋白质类(Intracellular Signaling Peptides and Proteins);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);突变(Mutation);系谱(Pedigree);表型(Phenotype);多态性, 单核苷酸(Polymorphism, Single Nucleotide);RNA剪接位点(RNA Splice Sites);同胞(Siblings)

DOI 10.1111/cge.13419

PMID 30039846

发布时间 2022-12-07

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Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease.

Clinical genetics

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Clinical genetics

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Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease.

Clinical genetics

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Clinical genetics

相关期刊

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