Annals of Laboratory Medicine

Korean Society for Laboratory Medicine (대한진단검사의학회)
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The First Case of Congenital Prekallikrein Deficiency in Korea With a Novel Pathogenic Variant (c.1198G>T)

  • Ryu, Sohee (Department of Laboratory Medicine, Seoul National University College of Medicine) ;
  • Gu, Ja-Yoon (Cancer Research Institute, Seoul National University College of Medicine) ;
  • Hong, Kyung Taek (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Han, Doo Hee (Department of Otorhinolaryngology, Seoul National University College of Medicine) ;
  • Kim, Hyun Kyung (Department of Laboratory Medicine, Seoul National University College of Medicine)
  • Received : 2018.04.19
  • Accepted : 2018.09.20
  • Published : 2019.03.01
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Supported by : NRF

Cited by

  1. Severe plasma prekallikrein deficiency: Clinical characteristics, novel KLKB1 mutations, and estimated prevalence vol.18, pp.7, 2019, https://doi.org/10.1111/jth.14805
  2. A Rare Cause of Isolated Prolonged Activated Partial Thromboplastin Time: An Overview of Prekallikrein Deficiency and the Contact System vol.9, 2019, https://doi.org/10.1177/23247096211012187