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Items: 4

1.

Mitochondrial disorders

(Submitter supplied) Extremely variable clinic and genetic features characterize Mitochondrial Encephalomyopathy Disorders (MED). Pathogenic mitochondrial DNA (mtDNA) defects can be divided into large-scale rearrangements and single point mutations. Clinical manifestations become evident when a threshold percentage of the total mtDNA is mutated. In some MED, the "mutant load" in an affected tissue is directly related to the severity of the phenotype. more...
Organism:
Homo sapiens
Type:
Expression profiling by array
Dataset:
GDS1065
Platform:
GPL96
15 Samples
Download data: CEL
Series
Accession:
GSE1462
ID:
200001462
2.
Full record GDS1065

Mitochondrial encephalomyopathies associated with mitochondrial DNA mutations

Analysis of muscle from 12 patients with various forms of mitochondrial encephalomyopathies associated with mitochondrial DNA mutations: 8 patients with a A3243G mutation, and 4 patients with a 4977 base pair deletion. Results identify possible expression signature for mitochondrial disorders.
Organism:
Homo sapiens
Type:
Expression profiling by array, count, 3 disease state, 3 genotype/variation sets
Platform:
GPL96
Series:
GSE1462
15 Samples
Download data: CEL
DataSet
Accession:
GDS1065
ID:
1065
3.

[HG-U133A] Affymetrix Human Genome U133A Array

(Submitter supplied) Affymetrix submissions are typically submitted to GEO using the GEOarchive method described at http://www.ncbi.nlm.nih.gov/projects/geo/info/geo_affy.html June 03, 2009: annotation table updated with netaffx build 28 June 08, 2012: annotation table updated with netaffx build 32 June 24, 2016: annotation table updated with netaffx build 35 Protocol: see manufacturer's web site The U133 set includes 2 arrays with a total of 44928 entries and was indexed 29-Jan-2002. more...
Organism:
Homo sapiens
364 DataSets
1125 Series
11 Related Platforms
42430 Samples
Download data
Platform
Accession:
GPL96
ID:
100000096
4.

A3243G-PEO subject 4

Organism:
Homo sapiens
Source name:
Skeletal muscle biopsy
Platform:
GPL96
Series:
GSE1462
Dataset:
GDS1065
Download data: CEL
Sample
Accession:
GSM24662
ID:
300024662
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