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题目:: Cystic leukoencephalopathy without megalencephaly
ID:
状态:: 发布时间June 2, 2009 , 更新时间 May 1, 2014 , 提交时间 July 1, 2008,
物种:: Homo sapiens
摘要:: The cystic leukoencephalopathy without megalencephaly has been defined as distinct autosomal-recessive syndrome of quasi-static encephalopathy with normo- or microcephaly, impaired psychomotor development and characteristic pattern on brain MRI. We identified mutations in the gene encoding the RNASET2 glycoprotein in seven affected individuals as the cause of disease. The results suggest that RNASET2 plays an important role in central nervous system myelination and development. 2-Color dye swap design independent for two different families including technical and biologial replicates for affected family members (disease) and not affected family members (controls).
实验种类:: transcription profiling by array
样本量:: 48
实验设计:
: 无设计数据
数据号:: E-GEOD-11964, GSE11964
数据状态:: 无法自动分析，您可以尝试手动分析数据。

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