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Severe Combined Immunodeficiency (SCID)-the Irish Experience.

作者信息

Burns Heather, Collins Abigail, Marsden Paul, Flood Terence J, Slatter Mary A, Booth Claire, Xu-Bayford Jinhua, Leahy Timothy Ronan

机构信息

National Newborn Bloodspot Screening Programme Governance Group , Dublin, Ireland.

Department of Public Health, Health Service Executive, Tullamore, Co Offaly, Ireland.

出版信息

J Clin Immunol. 2021 Nov;41(8):1950-1953. doi: 10.1007/s10875-021-01106-3. Epub 2021 Aug 10.

DOI:10.1007/s10875-021-01106-3
PMID:34374883
Abstract
摘要

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本文引用的文献

1
Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).一名因腺苷脱氨酶缺乏导致极重型联合免疫缺陷（ADA-SCID）的患者，其新发现的错义突变呈纯合状态。
Am J Hum Genet. 1991 Oct;49(4):878-85.