A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency (Family A)
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ABSTRACT: 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 individuals who received HSCT. Genomic DNA from 32 subjects (5 affected and 27 unaffected) from Family A was genotyped at 909,622 single nucleotide polymorphisms (SNPs) on the Genome-Wide Human SNP 6.0 Array (Affymetrix).
ORGANISM(S): Homo sapiens
SUBMITTER: Raif Geha
PROVIDER: E-GEOD-75314 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
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