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

Journal of Korean medical science : JKMS, v.20 no.2 = no.102, 2005년, pp.220 - 224  

Ki, Chang-Seok (Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.) ,  Kim, Jong-Won (Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.) ,  Kim, Hee-Jin (Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.) ,  Choi, Sung-Min (Department of Pediatrics, College of Medicine, Dongguk University, Gyeongju, Korea.) ,  Ha, Gyoung-Yim (Department of Laboratory Medicine, College of Medicine, Dongguk University, Gyeongju, Korea.) ,  Kang, Hee Jung (Department of Laboratory Medicine, Hallym University College of Medicine, Anyang, Korea.) ,  Kim, Won-Duck (Department of Pediatrics, College of Medicine, Dongguk University, Gyeongju, Korea.)

Abstract AI-Helper 아이콘AI-Helper

Complement C7 deficiency is an autosomal recessive disorder well known to be associated with increased susceptibility to meningococcal infection and has mostly been reported in Caucasians. In the Korean population, no case of C7 deficiency has been reported to date. Recently we experienced an 11-yr-...

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참고문헌 (26)

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