A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. [electronic resource]
Producer: 20060608Description: 179-85 p. digitalISSN:- 1476-4687
- Animals
- Biological Transport
- Calcium -- metabolism
- Calcium Channels -- metabolism
- Carrier State
- Chromosomes, Human, Pair 12 -- genetics
- Drosophila Proteins -- genetics
- Drosophila melanogaster -- genetics
- Electric Conductivity
- Gene Dosage
- Genome, Human
- Heterozygote
- Humans
- Lod Score
- Membrane Proteins -- genetics
- Mutation -- genetics
- NFATC Transcription Factors -- metabolism
- ORAI1 Protein
- Phenotype
- Polymorphism, Single Nucleotide -- genetics
- RNA Interference
- Severe Combined Immunodeficiency -- genetics
- T-Lymphocytes -- immunology
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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