- Three Cases of beta-thalassemia in Children with HBB Gene Mutation
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Kang EY, Lee HJ, Choi SI, Park EH, Kim SY, Hwang PH
- KMID: 2279917
- Clin Pediatr Hematol Oncol.
- 2007 Oct;14(2):192-197.
Beta thalassemia is an inherited anemia characterized by decreased or absent synthesis of beta globin chain and known to be uncommon in Korea, but is recently reported more frequently in... -
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- Beta-Thalassemia Minor Is Associated with IgA Nephropathy
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Kang JH, Park BR, Kim KS, Kim DY, Huh HJ, Chae SL, Shin SJ
- KMID: 1781318
- Ann Lab Med.
- 2013 Mar;33(2):153-155.
- doi: 10.3343/alm.2013.33.2.153
No abstract available. -
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- A Case of beta Thalassemia Intermedia Due to Hemoglobin Cagliari (beta 60 Val - >Glu)
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Park ES, Han HY, Lim JY, Park SS, Kim SY
- KMID: 2252134
- Korean J Hematol.
- 2009 Sep;44(3):153-156.
- doi: 10.5045/kjh.2009.44.3.153
Beta Thalassemia is a very rare disease in Korea. Only14 mutations have been reported in South Korea to date. This is the first case of beta thalassemia intermedia due to... -
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- In vivo Mapping of the Cis-acting Element Responsible for Spatial Regulation of the EphA8 Gene Expression in Mesencephalon
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Kim J, Park S
- KMID: 1564264
- Korean J Anat.
- 2005 Apr;38(2):125-131.
This study was aimed to map the 1 kb cis-acting DNA of ephA8 gene, which regulates the spatial and temporal expression in the anterior mesencephalon. It was demonstrated that the... -
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- beta-Thalassemia Mutation, IVS-II-1 G-->A Found in Koreans Uniquely Linked to the Silent Mutation C-->T at Codon 91 of the beta-Globin Gene
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Lee YJ, Paik NH, Park SS, Kim JY, Joo SI, Kim JQ, Han KS, Kim EC, Park MH, Cho HI
- KMID: 2135505
- J Clin Pathol Qual Control.
- 2001 Dec;23(2):277-280.
The mutation spectrum of beta-thalassemia in the Korean population is heterogeneous and quite different from the highly prevalent areas. We found four families with beta-thalassemia due to IVS-II-1, G-->A mutation... -
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- Development of Mutation Scanning Method for the Molecular Diagnosis of beta-thalassemia using Dideoxy Fingerprinting (ddF)
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Joo SI, Park SS
- KMID: 1963108
- J Clin Pathol Qual Control.
- 2001 Jun;23(1):193-199.
BACKGROUND: beta-Thalassaemia is the most common single-gene disorders due to the mutations of the beta-globin gene. Because beta-thalassemic mutations are scattered throughout the beta-globin gene, mutation scanning technique may be... -
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- Clinical Characteristics of Pediatric Thalassemia in Korea: A Single Institute Experience
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Hong CR, Kang HJ, Lee JW, Kim H, Kim NH, Park KD, Park JD, Seong MW, Park SS, Shin HY, Ahn HS
- KMID: 1777663
- J Korean Med Sci.
- 2013 Nov;28(11):1645-1649.
- doi: 10.3346/jkms.2013.28.11.1645
Few literatures have elaborated on the clinical characteristics of children with thalassemia from low-prevalence areas. A retrospective analysis was conducted on children genetically confirmed with thalassemia at Seoul National University... -
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- A Case of Dominantly Inherited beta Thalassemia Due to Hb Dieppe
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Choi YK, Lee HJ, Park WI, Lee KJ, Kang SH, Kim JY, Park SS
- KMID: 2335642
- J Korean Pediatr Soc.
- 2002 May;45(5):659-663.
beta thalassemias are usually transmitted as autosomal recessive traits. However, some dominant forms of beta thalassemia have been identified in individuals who have inherited a single copy of an abnormal... -
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- Selenoprotein S Suppression Enhances the Late Stage Differentiation of Proerythrocytes Via SIRT1
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Yang HY, Chung KJ, Park HR, Han SJ, Lee SR, Chay KO, Kim IY, Park BJ, Lee TH
- KMID: 1457118
- Int J Oral Biol.
- 2010 Jun;35(2):61-67.
Selenoprotein S (SelS) is widely expressed in diverse tissues where it localizes in the plasma membrane and endoplasmic reticulum. We studied the potential function of SelS in erythrocyte differentiation using... -
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- A Case of Red Blood Cell Exchange Transfusion in a Patient with Hemoglobin S/beta-Thalassemia
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Choi R, Song J, Jung HK, Kim S, Jung CW, Park HD, Ki CS, Kang ES, Kim DW
- KMID: 1424277
- Korean J Blood Transfus.
- 2012 Dec;23(3):256-261.
Sickle cell disease and beta-thalassemia are caused by abnormal hemoglobin (Hb) derived from mutation of the HBB gene encoding beta-globin. Compound heterozygous status for both mutations results in Hb S/beta-thalassemia... -
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- Cryptic Plasmid Amplification of Chlamydia trachomatis at a Korean Health Center for Female Commercial Sex Workers
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Lee G, Sohng I
- KMID: 2294213
- Korean J Urol.
- 2006 Jan;47(1):37-41.
- doi: 10.4111/kju.2006.47.1.37
PURPOSE: Chlamydia trachomatis infection is the most common bacterial sexually transmitted disease. It is generally accepted that female commercial sex workers (FCSWs) are at an increased risk of incurring sexually... -
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- Assessment of DNA Viability in Long Term-Stored Buffy Coat Species for the Korean Multicenter Cancer Cohort
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Yang M, Yoo J, Kim CS, Shin A, Kang D, Chang SH, Park SK, Shin HR, Yoo KY
- KMID: 2283487
- Korean J Prev Med.
- 2003 Nov;36(4):373-376.
OBJECTIVES: Peripheral blood-buffy coat fractions (N = 14, 956) have been stored at -70degrees C in the headquarter of the Korean Multicenter Cancer Cohort (KMCC), since 1993. To study the... -
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- HPV Genotyping in Squamous Cell Carcinoma of Upper Aerodigestive Tract
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Kim Y, Jeong EH, Min BW, Kim SS, Choi YD, Jung WJ, Nam JH, Park CS
- KMID: 2277556
- Korean J Pathol.
- 2010 Oct;44(5):483-487.
BACKGROUND: Smoking and alcohol consumption are the main risk factors for squamous cell carcinoma of the upper aerodigestive tract (SCCUAT). However, human papillomavirus (HPV) has been etiologically linked with tonsillar... -
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- Detection of Urease Gene in Infected Calculi Using Polymerase Chain Reaction
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Kim KJ, Lee CW, Shin HC
- KMID: 2060807
- Korean J Urol.
- 1999 Jul;40(7):817-822.
PURPOSE: Urea-splitting organisms have known to participate in the formation of infected calculi, but sometimes, causative organisms were not detected in urine culture. We compared results of polymerase chain reaction... -
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- Homozygous Deletion of p16INK4 and p15INK4B Genes in Human Advanced Ovarian Carcinoma
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Lee CM, Kang SB
- KMID: 2261895
- Korean J Obstet Gynecol.
- 2000 Apr;43(4):649-658.
OBJECTIVE: p16INK4 and p15INK4B genes are known to be tumor suppressor genes which reside in p21 region of chromosome 9 and are related to cell cycle control as an inhibitor of... -
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- Gender Verification Test Based on PCR Determination of Y Chromosomal DNA: Experience in Genetic Sex Typing during the '99 Kangwon Asian Winter Games
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Kim JU, Herr H, Chang HK, Ahn HK, Oh KJ, Kim HK
- KMID: 2225941
- Korean J Clin Pathol.
- 2000 Apr;20(2):215-246.
BACKGROUND: The aim of gender verification test is to maintain impartiality among female competitors by excluding males in women's sports competitions. Some microscopic methods such as X-chromatin test and Y-chromatin... -
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- Comparison between Hybrid Capture System and Polymerase Chain Reaction in HPV DNA Detection
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Lee CH, Chung TY, Lee MK, Park JS, Yoon KJ
- KMID: 1561316
- J Clin Pathol Qual Control.
- 2000 Jun;22(1):167-173.
BACKGROUND: Human papilloma virus (HPV) including more than 80 subtypes has been known to be associated with the utero-cervical cancer by many investigators. So, the advanced methods for detection of... -
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- Hemoglobin Yamagata: Hemoglobin Variant Detected by HbA1c Test
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Jung CL, Kwon KJ, Hong KS, Sung YA, Lee ST, Ki CS, Lee MA, Chung WS
- KMID: 1781607
- Korean J Lab Med.
- 2009 Dec;29(6):536-540.
- doi: 10.3343/kjlm.2009.29.6.536
Hemoglobin (Hb) Yamagata is a rare Hb variant, which has been reported only twice-one case each in Japan and Korea. This variant arises from a Lys --> Asn substitution due... -
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