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Clinical Presentation with High Penetrance in a Korean Family with Pulmonary Arterial Hypertension Associated with a BMPR2 Intron 3 Splice Site Pathogenic Variant

Kim MJ, Lee S, Jekarl DW, Chae H, Kim M, Jung HO, Jeon DS

  • Lab Med Online.
  • 2018 Jul;8(3):119-124.
  • doi: 10.3343/lmo.2018.8.3.119
Pathogenic variants of bone morphogenic protein receptor type 2 gene (BMPR2) are related to the majority of cases of heritable pulmonary arterial hypertension (PAH). Over 400 pathogenic variants have been...
Two Korean Cases of Hereditary Spherocytosis Caused by Mutations in SLC4A1

Cho H, Lee JW, Chung NG, Lee SE, Jang W, Kim M, Han K, Kim Y

  • Lab Med Online.
  • 2018 Jul;8(3):114-118.
  • doi: 10.3343/lmo.2018.8.3.114
Hereditary spherocytosis (HS) is caused by mutations in the SPTA1, SPTB, ANK1, SLC4A1, and EPB42 genes, all of which encode erythrocyte membrane proteins. Mutations in SLC4A1, which encodes band 3...
Status of BRCA1/2 Genetic Testing Practices in Korea (2014)

Lee K, Jang JH, Lee ST, Yoon KA, Lee ES, Kim JW, Kong SY

  • Lab Med Online.
  • 2018 Jul;8(3):107-113.
  • doi: 10.3343/lmo.2018.8.3.107
BACKGROUND: The aim of this study was to investigate the status of BRCA1/2 genetic testing practices in Korea in 2014. METHODS: A structured questionnaire was provided to the specialist in charge...
Biological and Genetic Characteristics of Clinically Isolated Enterobacter cloacae with Multidrug Resistance

Kim JJ, Koo SH

  • Lab Med Online.
  • 2018 Jul;8(3):99-106.
  • doi: 10.3343/lmo.2018.8.3.99
BACKGROUND: From January 2014 to December 2015, 69 clones of Enterobacter cloacae showing multidrug resistance to six classes of antimicrobial agents were collected from two medical centers in Korea. METHODS: Minimum...
Preliminary Study on Clinical Utility of Autoimmune Target Test in Psychiatric Disorders

Kim KN, Jearn LH, Kim TY

  • Lab Med Online.
  • 2018 Jul;8(3):94-98.
  • doi: 10.3343/lmo.2018.8.3.94
BACKGROUND: Autoantibodies have been detected in patients with psychiatric disorders. However, there is no standard test for the detection of these autoantibodies. In this study, we analyzed autoimmune target (AIT)...
Comparison of Auto RPR Plus and Auto TPIM Plus with Mediace RPR and Abbott Syphilis TP for Serologic Diagnosis of Syphilis

Kim HJ, Nah EH, Cho S, Jeong SY

  • Lab Med Online.
  • 2018 Jul;8(3):87-93.
  • doi: 10.3343/lmo.2018.8.3.87
BACKGROUND: Serologic testing is considered a standard method for syphilis diagnosis. We compared Auto RPR Plus and Auto TPIM Plus with previously developed assays. METHODS: The precision around the cut-off, linearity,...
Evaluation of the Self-Testing Blood Glucose Monitoring System GlucoDr.S According to ISO 15197:2013 Guidelines

Kim N, Kim BG, Jun SH, Lee K, Oh TJ, Choi SH, Lim S, Song SH, Song WH, Song J, Jang HC

  • Lab Med Online.
  • 2018 Jul;8(3):77-86.
  • doi: 10.3343/lmo.2018.8.3.77
BACKGROUND: The performance of the self-monitoring of blood glucose in patients with diabetes should be properly evaluated to ensure strict glycemic control. This study evaluated the self-testing Blood Glucose Monitoring...

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