Mutations: Another Cause of Primary Familial Brain Calcification.
作者信息
Erro Roberto, Schneider Susanne A
机构信息
Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology London United Kingdom.
Dipartimento di Scienze Neurologiche e del Movimento Università di Verona Verona Italy.
出版信息
Mov Disord Clin Pract. 2015 Oct 12;3(1):27-28. doi: 10.1002/mdc3.12240. eCollection 2016 Jan-Feb.
Abstract
摘要
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本文引用的文献
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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
Nat Genet. 2015 Jun;47(6):579-81. doi: 10.1038/ng.3289. Epub 2015 May 4.
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Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization.
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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.
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Inorganic phosphate export by the retrovirus receptor XPR1 in metazoans.
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