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Items: 3

1.

Cystic leukoencephalopathy without megalencephaly

(Submitter supplied) 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.
Organism:
Homo sapiens
Type:
Expression profiling by array
Platform:
GPL7002
24 Samples
Download data: XML
Series
Accession:
GSE11964
ID:
200011964
2.

Custom Human Agilent Array 11k, Chromosome 6, Expression

(Submitter supplied) see manufacturer's web site
Organism:
Homo sapiens
2 Series
30 Samples
Download data
Platform
Accession:
GPL7002
ID:
100007002
3.

Lymphoblasts ALD vs. control fam1 rep8

Organism:
Homo sapiens
Source name:
lymphoblasts from control patient B3 (channel 1) lymphoblasts from control patient N4 (channel 2)
Platform:
GPL7002
Series:
GSE11964
Download data: XML
Sample
Accession:
GSM302346
ID:
300302346
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