Two Novel Mutations in the C7 gene in a Korean Patient with Complement C7 Deficiency-Reference-Cited by-同舟云学术

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Two Novel Mutations in the C7 gene in a Korean Patient with Complement C7 Deficiency

Published:2005 Issue:2 Volume:20 Page:220
ISSN:1011-8934
Container-title:Journal of Korean Medical Science
language:en
Short-container-title:J Korean Med Sci

Author:

Ki Chang-Seok¹,Kim Jong-Won¹,Kim Hee-Jin¹,Choi Sung-Min²,Ha Gyoung-Yim³,Kang Hee Jung⁴,Kim Won-Duck²

Affiliation:

1. Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

2. Department of Pediatrics, College of Medicine, Dongguk University, Gyeongju, Korea.

3. Department of Laboratory Medicine, College of Medicine, Dongguk University, Gyeongju, Korea.

4. Department of Laboratory Medicine, Hallym University College of Medicine, Anyang, Korea.

Publisher

Korean Academy of Medical Sciences

Subject

General Medicine

Link

https://synapse.koreamed.org/pdf/10.3346/jkms.2005.20.2.220

Cited by 10 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. Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity;Frontiers in Immunology;2023-05-25

2. Comprehensive Update and Revision of Nomenclature on Complement C6 and C7 Variants;The Journal of Immunology;2022-06-15

3. Disseminated gonococcal infection in a Japanese man with complement 7 deficiency with compound heterozygous variants;Medicine;2021-04-02

4. Human genetics of meningococcal infections;Human Genetics;2020-02-17

5. Complement factor 7 gene mutations in relation to meningococcal infection and clinical recurrence of meningococcal disease;Molecular Immunology;2010-01

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