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Series GSE11964 Query DataSets for GSE11964
Status Public on Jun 02, 2009
Title Cystic leukoencephalopathy without megalencephaly
Organism Homo sapiens
Experiment type Expression profiling by array
Summary 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.
Overall design 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).
Contributor(s) Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschuetter A, Kraetzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Rueschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nuernberg P, Gaertner J
Citation(s) 19525954
Submission date Jul 02, 2008
Last update date Jan 18, 2013
Contact name Gabriela Salinas
Organization name Universitaetsmedizin Goettingen
Department Department of Pathology
Lab NGS Integrative Genomics
Street address Kreuzbergring 57
City Goettingen
State/province Lower-Saxony
ZIP/Postal code 37075
Country Germany
Platforms (1)
GPL7002 Custom Human Agilent Array 11k, Chromosome 6, Expression
Samples (24)
GSM302307 Lymphoblasts ALD vs. control fam1 rep1
GSM302308 Lymphoblasts ALD vs. control fam1 rep2
GSM302341 Lymphoblasts ALD vs. control fam1 rep3
BioProject PRJNA105833

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE11964_RAW.tar 48.0 Mb (http)(custom) TAR (of XML)
Processed data included within Sample table

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