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- [1] Antibody-deficiency and acute nephritic syndrome in a patient with homozygous disruption of the CD81 gene CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2008, 154 : 209 - 210
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- [5] CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency JOURNAL OF CLINICAL INVESTIGATION, 2010, 120 (04): : 1265 - 1274
- [6] De novo homozygous variant of the SCN1A gene in a patient with severe Dravet syndrome complicated by acute encephalopathy neurogenetics, 2021, 22 : 133 - 136
- [9] GH deficiency as the first endocrinopathy in a Brazilian patient with an AIRE gene homozygous p326l mutation causing the APECED syndrome CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2008, 154 : 29 - 29