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Paper Details

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.
Front Immunol
26
2018
1-Mb, 1-bp insertion, Chromosome, Chromosome 4 Segmental Uniparental Isodisomy, Epstein Barr viremia, LRBA, LRBA Deficiency, LRBA allele, LRBA deficiency, LRBA gene, LRBA locus, Patient, UPD, autosomal recessive disorder, bacterial and viral infections, chromosomal region, chromosome 4, enlarged liver and spleen, exon 23, hypogammaglobulinemia, inflammatory bowel disease, isodisomy, oral thrush, paternal chromosome 4, patient, patients, pneumococcal meningitis, premature stop codon, psoriasis, stem cell transplants, type 1 diabetes, uniparental disomy
Author NameAffiliation
Mattia BosioThe Barcelona Institute of Science and Technology
Mattia BosioUniversitat Pompeu Fabra
Stephan OssowskiThe Barcelona Institute of Science and Technology
Stephan OssowskiUniversitat Pompeu Fabra
Stephan OssowskiInstitute of Medical Genetics and Applied Genomics, University of Tubingen
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