A novelBTKgene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia-Reference-Cited by-同舟云学术

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A novelBTKgene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia

Published:2016 Issue:Suppl 1 Volume:59 Page:S49
ISSN:1738-1061
Container-title:Korean Journal of Pediatrics
language:en
Short-container-title:Korean J Pediatr

Author:

Lee Jeongeun¹²,Rhee Minhee¹²,Min Taek Ki¹²,Bang Hae In³,Jang Mi-Ae⁴,Kang Eun-Suk⁴,Kim Hee-Jin⁴,Yang Hyeon-Jong¹²,Pyun Bok Yang¹²

Affiliation:

1. Department of Pediatrics, Soonchunhyang University Seoul Hospital, Soonchunhyang University College of Medicine, Seoul, Korea.

2. Pediatric Allergy and Respiratory Center, Soonchunhyang University Seoul Hospital, Soonchunhyang University College of Medicine, Seoul, Korea.

3. Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital, Soonchunhyang University College of Medicine, Seoul, Korea.

4. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Funder

Soonchunhyang University

Publisher

Korean Pediatric Society

Subject

Pediatrics,Pediatrics, Perinatology, and Child Health

Link

https://synapse.koreamed.org/pdf/10.3345/kjp.2016.59.11.S49

Reference15 articles.

1. Pneumococcal Antibody Levels in Children With PID Receiving Immunoglobulin

2. BTKbase: the mutation database for X-linked agammaglobulinemia

3. Prevalence of Primary Immunodeficiency in Korea

4. Analysis of Clinical Presentations of Bruton Disease: A Review of 20 Years of Accumulated Data from Pediatric Patients at Severance Hospital

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Synthesis and Biological Evaluation of Oxindole Sulfonamide Derivatives as Bruton's Tyrosine Kinase Inhibitors**;ChemMedChem;2023-11-22

2. Molecular alterations in the integrated diagnosis of pediatric glial and glioneuronal tumors: A single center experience;PLOS ONE;2022-04-01

3. Novel BTK mutation in X-linked agammaglobulinemia: Report of a 17-year-old male;Allergologia et Immunopathologia;2021-03-01

4. Pulmonary Manifestations of Predominantly Antibody Deficiencies;Pulmonary Manifestations of Primary Immunodeficiency Diseases;2019

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