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

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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Detalhes bibliográficos
Main Authors: Ki, Chang-Seok, Kim, Jong-Won, Kim, Hee-Jin, Choi, Sung-Min, Ha, Gyoung-Yim, Kang, Hee Jung, Kim, Won-Duck
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Academy of Medical Sciences 2005
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2808595/
https://ncbi.nlm.nih.gov/pubmed/15831990
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2005.20.2.220
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