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2021 2
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Page 1
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.
Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA. Duncan CJA, et al. Among authors: shuttleworth vg. Sci Immunol. 2019 Dec 13;4(42):eaav7501. doi: 10.1126/sciimmunol.aav7501. Sci Immunol. 2019. PMID: 31836668 Free PMC article.
The Rare C9 P167S Risk Variant for Age-related Macular Degeneration Increases Polymerization of the Terminal Component of the Complement Cascade.
Mc Mahon O, Hallam TM, Patel S, Harris CL, Menny A, Zelek WM, Widjajahakim R, Java A, Cox T, Tzoumas N, Steel DHW, Shuttleworth VG, Smith-Jackson K, Brocklebank V, Griffiths H, Cree AJ, Atkinson JP, Lotery AJ, Bubeck D, Morgan BP, Marchbank KJ, Seddon JM, Kavanagh D. Mc Mahon O, et al. Among authors: shuttleworth vg. Hum Mol Genet. 2021 Mar 30:ddab086. doi: 10.1093/hmg/ddab086. Online ahead of print. Hum Mol Genet. 2021. PMID: 33783477