OR13-001 Loss-of-function mutations in CECR1, encoding adenosine deaminase 2 (ADA2), cause recurrent fevers and early onset strokes

被引：0
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作者：
Q Zhou
A Zavialov
J Chae
M Hershfield
R Sood
S Burgess
A Zavialov
D Chin
M Gadina
R Goldbach-Mansky
A Ombrello
D Stone
I Aksentijevich
D Kastner
机构：
[1] NHGRI,Inflammatory Disease Section
[2] University of Turku,Turku Centre for Biotechnology
[3] Duke University Medical Center,Medicine
[4] Zebrafish Core,Developmental Genomics Section
[5] NHGRI,Office of Science and Technology
[6] NIAMS,Translational Autoinflammatory Disease Section
[7] NIAMS,undefined
来源：
Pediatric Rheumatology | / 11卷 / Suppl 1期
关键词：
Adenosine Deaminase; Severe Combine Immunodeficiency; Lacunar Stroke; Severe Combine Immunodeficiency Disease; Livedo Reticularis;
D O I：
10.1186/1546-0096-11-S1-A263
中图分类号：
学科分类号：
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