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GenomicsWhole Exome Sequencing Identifies TTC7A Mutations for Combined Immunodeficiency with Intestinal Atresia

Combined Immunodeficiency with Multiple Intestinal Atresias (CID-MIA) is a rare genetic disorder with the cause previously unknown. Symptoms of CID-MIA include atresias in the small and/or large intestine, as well as immunodeficiency. In this study, we sequenced the whole exome of 5 unrelated CID...

phs000641.v1.p1 | EGA
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
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
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