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Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia.
Am J Hum Genet. 2018 Mar 1;102(3):480-486. doi: 10.1016/j.ajhg.2018.01.019. Epub 2018 Feb 15.
Am J Hum Genet. 2018.
PMID: 29455859
Free PMC article.
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.
Magg T, Okano T, Koenig LM, Boehmer DFR, Schwartz SL, Inoue K, Heimall J, Licciardi F, Ley-Zaporozhan J, Ferdman RM, Caballero-Oteyza A, Park EN, Calderon BM, Dey D, Kanegane H, Cho K, Montin D, Reiter K, Griese M, Albert MH, Rohlfs M, Gray P, Walz C, Conn GL, Sullivan KE, Klein C, Morio T, Hauck F.
Magg T, et al.
Sci Immunol. 2021 Jun 18;6(60):eabf9564. doi: 10.1126/sciimmunol.abf9564.
Sci Immunol. 2021.
PMID: 34145065
Free PMC article.
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