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Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain.

作者信息

Acres Meghan J, Gothe Florian, Grainger Angela, Skelton Andrew J, Swan David J, Willet Joseph D P, Leech Suzy, Galcheva Sonya, Iotova Violeta, Hambleton Sophie, Engelhardt Karin R

机构信息

Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom; Department of Pediatrics, Dr von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.

出版信息

J Allergy Clin Immunol. 2019 Jan;143(1):413-416.e4. doi: 10.1016/j.jaci.2018.08.032. Epub 2018 Sep 8.

DOI:10.1016/j.jaci.2018.08.032
PMID:30205186
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6320259/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a84/6320259/a9e420fc98e4/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a84/6320259/1d993f98551f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a84/6320259/5af10cb2aaaa/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a84/6320259/a9e420fc98e4/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a84/6320259/1d993f98551f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a84/6320259/5af10cb2aaaa/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a84/6320259/a9e420fc98e4/fx1.jpg

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