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Background: Group B streptococcus (GBS) is the most common cause of invasive neonatal infections in developed countries. The incidence of early‐onset GBS disease in Korea is known to be much lower than that in other developed countries; however neonatal GBS disease has been frequently reported in recent years in Korea. This retrospective study sought to determine the current status and clinical presentation...
Mutations in the Brutons tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA). We identified BTK mutations in six patients with presumed XLA from unrelated Korean families. Four out of six mutations were novel: two missense mutations (P565T, C154Y), a point mutation in a splicing donor site (IVS11+1GA), and a large deletion (a 6.1-kb deletion including BTK exons 1118)....
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