Biblio
2024
van der Made CI, Kersten S, Chorin O, Engelhardt KR, Ramakrishnan G, Griffin H, van der Loeff ISchim, Venselaar H, Rothschild ARaas, Segev M, et al. Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome. Am J Hum Genet. 2024.