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Defective MHC class II expression in an MHC class II deficiency patient is caused by a novel deletion of a splice donor site in the MHC class II transactivator gene.
Peijnenburg A, Van den Berg R, Van Eggermond MJ, Sanal O, Vossen JM, Lennon AM, Alcaïde-Loridan C, Van den Elsen PJ. Peijnenburg A, et al. Among authors: van eggermond mj, van den elsen pj, van den berg r. Immunogenetics. 2000 Jan;51(1):42-9. doi: 10.1007/s002510050007. Immunogenetics. 2000. PMID: 10663561
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