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GenomicsSpreading of X-chromosome inactivation via a hierarchy of defined Polycomb stations
Binding of Polycomb repressive complex 2 (PRC2) and chromatin composition of the inactive X (Xi) before, during and after X chromosome inactivation reveal that spreading is driven by a combination of Xi-specific strong and moderate Ezh2 sites. Sequence context of these sites shows a moderate enrichm...
ORGANISM(S): Mus musculus 
2012-11-01 | E-GEOD-36905 | biostudies-arrayexpress
TranscriptomicsA missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency (Family A)
Affymetrix 6.0 SNP data for genome-wide linkage scans of a consanguineous Kuwaiti family with a combined immunodeficiency Peripheral blood or saliva were used for patients who had no history of hematopoietic stem cell transplant (HSCT). Fibroblasts cell lines were used as a source of DNA for individ...
ORGANISM(S): Homo sapiens 
2015-11-25 | E-GEOD-75314 | biostudies-arrayexpress
TranscriptomicsA missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency (Family B)
Affymetrix 6.0 SNP data for haplotype comparison of patients from two different families sharing the same homozygous mutation in TFRC, to determine if the families were related to each other Peripheral blood was used for patients who had no history of hematopoietic stem cell transplant (HSCT). Fibro...
ORGANISM(S): Homo sapiens 
2015-11-25 | E-GEOD-75349 | biostudies-arrayexpress
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