GSE50441[Accession] - GEO DataSets

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Items: 5

Select item 2000504411.

Paternal segmental isodisomy of centromeric region on chromosome 1 as a cause of juvenile hemochromatosis

(Submitter supplied) Juvenile hemochromatosis type 2A in the studied patient was caused by a homozygous mutation c.196G>T (p.G66*) in hemojuvelin. Homozygous state for this mutation evolved through interstitial segmental isodisomy encompassing the centromeric region of chromosome 1 accompanying its paternal disomy. The disomy resulted into normal karyotype

Organism:: Homo sapiens

Type:: Genome variation profiling by SNP array; SNP genotyping by SNP array

Platform:: GPL6801
3 Samples

Download data: CEL, CHP

Series

Accession:: GSE50441

ID:: 200050441

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Select item 1000068012.

[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 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 (ucsc=hg18; ncbi=NCBI36) August 01, 2012: annotation table updated with netaffx build 32 (ucsc=hg19; ncbi=GRCh37) Protocol: see manufacturer's web site The new Affymetrix® Genome-Wide Human SNP Array 6.0 features 1.8 million genetic markers, including more than 906,600 single nucleotide polymorphisms (SNPs) and more than 946,000 probes for the detection of copy number variation. more...