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Items: 4

1.

Epigenetic alterations of a DNMT3B-mutant ICF patient at base-pair resolution

(Submitter supplied) The immunodeficiency, centromere instability and facial anomalies (ICF) syndrome is associated with mutation of the DNA methyl-transferase DNMT3B, resulting in a reduction of enzyme activity. Aberrant expression of immune system genes and hypomethylation of pericentromeric regions accompanied by chromosomal instability were determined as alterations driving the disease phenotype. However, so far only technologies capable of analyzing single loci were applied to determine epigenetic alterations in ICF patients. more...
Organism:
Homo sapiens
Type:
Methylation profiling by high throughput sequencing
Platform:
GPL11154
2 Samples
Download data: TXT
Series
Accession:
GSE37578
ID:
200037578
2.

Illumina HiSeq 2000 (Homo sapiens)

Platform
Accession:
GPL11154
ID:
100011154
3.

ICF patient

Organism:
Homo sapiens
Source name:
Blood, ICF patient
Platform:
GPL11154
Series:
GSE37578
Download data: TXT
Sample
Accession:
GSM922329
ID:
300922329
4.

Healthy control

Organism:
Homo sapiens
Source name:
Blood, healthy control
Platform:
GPL11154
Series:
GSE37578
Download data: TXT
Sample
Accession:
GSM922328
ID:
300922328
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Supplemental Content

db=gds|term=GSE37578[Accession]|query=1|qty=2|blobid=MCID_66434602ec958f7d100537a5|ismultiple=true|min_list=5|max_list=20|def_tree=20|def_list=|def_view=|url=/Taxonomy/backend/subset.cgi?|trace_url=/stat?
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