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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

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...
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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

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...
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Status of BRCA1/2 Genetic Testing Practices in Korea (2014)

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

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...
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Biological and Genetic Characteristics of Clinically Isolated Enterobacter cloacae with Multidrug Resistance

Kim JJ, Koo SH

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...
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Preliminary Study on Clinical Utility of Autoimmune Target Test in Psychiatric Disorders

Kim KN, Jearn LH, Kim TY

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)...
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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

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,...
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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

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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