脆性 X 相关震颤/共济失调综合征的脆性 X 前突变携带者的中枢神经系统和非中枢神经系统器官中的 FMRpolyG 阳性包涵体。
FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome.
机构信息
Department of Clinical Genetics, Erasmus 3000CA, MC, The Netherlands.
出版信息
Acta Neuropathol Commun. 2014 Nov 26;2:162. doi: 10.1186/s40478-014-0162-2.
PMID:25471011
Abstract
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本文引用的文献
[1]
[2]
Epidemiology of fragile X syndrome: a systematic review and meta-analysis.
Am J Med Genet A. 2014-7
[3]
[4]
[5]
CGG repeat in the FMR1 gene: size matters.
Clin Genet. 2011-6-30
[6]
Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.
Eur J Hum Genet. 2009-10
[7]
[8]