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Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.

作者信息

Rathore Geetanjali S, Schaaf Christian P, Stocco Amber J

机构信息

Department of Neurology and Developmental Neuroscience, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.

出版信息

Mov Disord. 2014 Apr;29(4):574-5. doi: 10.1002/mds.25868. Epub 2014 Mar 7.

DOI:10.1002/mds.25868
PMID:24610255
Abstract
摘要

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, one gene associated with multiple neurodevelopmental disorders.与多种神经发育障碍相关的一个基因。
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DNA Methylation Patterns of Chronic Explosive Breaching in U.S. Military Warfighters.美国军事作战人员慢性爆炸伤的DNA甲基化模式
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Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum.β-螺旋桨蛋白相关神经变性（BPAN）的单中心经验；扩展表型谱。
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Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy.受β-螺旋桨蛋白相关神经退行性变影响的患者：铁螯合疗法的治疗尝试
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Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases.涉及铁和髓磷脂的病理关系可能构成一种共同机制，将各种罕见和常见的脑部疾病联系起来。
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WDR45 mutations in three male patients with West syndrome.三名患有韦斯特综合征的男性患者中的WDR45基因突变。
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