- Letter to the Editor: Presence of Evolutionary Pressures or Genotyping Error
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Saadat M
- KMID: 1793010
- J Korean Med Sci.
- 2012 Mar;27(3):335-335.
- doi: 10.3346/jkms.2012.27.3.335
No abstract available. -
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- First Korean Case of SATB2-Associated 2q32-q33 Microdeletion Syndrome
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Yu N, Shin S, Lee KA
- KMID: 2363196
- Ann Lab Med.
- 2015 Mar;35(2):275-278.
- doi: 10.3343/alm.2015.35.2.275
No abstract available. -
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- Meta-analysis of the Association between HLA-DRB1 Allele and Rheumatoid Arthritis Susceptibility in Asian Populations
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Jun KR, Choi SE, Cha CH, Oh HB, Heo YS, Ahn HY, Lee KJ
- KMID: 1785756
- J Korean Med Sci.
- 2007 Dec;22(6):973-980.
- doi: 10.3346/jkms.2007.22.6.973
The aims of this study were to summarize results on the association of HLA-DRB1 with rheumatoid arthritis (RA) in Asians and to determine if the shared epitope (SE) hypothesis could... -
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- A Novel Hemizygous I418S Mutation in the ALAS2 Gene in a Young Korean Man with X-Linked Sideroblastic Anemia
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Moon SY, Jun IJ, Kim JE, Lee SJ, Kim HK, Yoon SS
- KMID: 1791912
- Ann Lab Med.
- 2014 Mar;34(2):159-162.
- doi: 10.3343/alm.2014.34.2.159
No abstract available. -
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- Analysis of Acute Myeloid Leukemia in Korean Patients with Sole Trisomy 6
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Yu S, Kwon MJ, Lee ST, Woo HY, Park H, Kim SH
- KMID: 1791959
- Ann Lab Med.
- 2014 Sep;34(5):402-404.
- doi: 10.3343/alm.2014.34.5.402
No abstract available. -
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- The First Korean Case of Childhood Acute Myeloid Leukemia with Inv(11)(p15q22)/NUP98-DDX10 Rearrangement: A Rare but Recurrent Genetic Abnormality
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Choi R, Jang MA, Yoo KH, Lee ST, Kim HJ, Kim SH
- KMID: 2129577
- Ann Lab Med.
- 2014 Nov;34(6):478-480.
- doi: 10.3343/alm.2014.34.6.478
No abstract available. -
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- Cys482Trp Missense Mutation in the Coagulation Factor XI Gene (F11) in a Korean Patient with Factor XI Deficiency
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Choi SJ, Kim J, Lee KA, Choi JR, Yoo J
- KMID: 1791945
- Ann Lab Med.
- 2014 Jul;34(4):332-335.
- doi: 10.3343/alm.2014.34.4.332
No abstract available. -
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- Genetic Confirmation of Congenital Factor V Deficiency in Korean Patients
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Park CH, Yoo K, Lee KO, Kim SH, Sung KW, Kim HJ
- KMID: 2373522
- Ann Lab Med.
- 2016 Mar;36(2):182-184.
- doi: 10.3343/alm.2016.36.2.182
No abstract available. -
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- Spectrin Tunis (Sp alpha I/78) in a Korean Family with Hereditary Elliptocytosis
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Han E, Kim A, Park J, Kim M, Kim Y, Han K, Kim YJ
- KMID: 1781350
- Ann Lab Med.
- 2013 Sep;33(5):386-389.
- doi: 10.3343/alm.2013.33.5.386
No abstract available. -
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- Letter to the Editor: Detection of EML4-ALK and Other ALK Fusion Genes in Lung Cancer: A Lesson from the Leukemia Fusion Gene Analysis and Future Application
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Park TS, Jeon YL, Lee HJ, Jeong JH, Kim SY, Cho EH, Marschalek R, Meyer C
- KMID: 1372806
- J Korean Med Sci.
- 2012 May;27(5):576-577.
- doi: 10.3346/jkms.2012.27.5.576
No abstract available. -
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- Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Korean Infant With Compound Heterozygous PRF1 Defects Involving a PRF1 Mutation, c.1091T>G
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Kim MS, Cho YU, Jang S, Seo EJ, Im HJ, Park CJ
- KMID: 2373636
- Ann Lab Med.
- 2017 Mar;37(2):162-165.
- doi: 10.3343/alm.2017.37.2.162
No abstract available. -
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- Rare Frameshift Mutation Cys475Tyrfs*11 in the BCR/ABL Kinase Domain Contributes to Imatinib Mesylate Resistance in 2 Korean Patients with Chronic Myelogenous Leukemia
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Park SH, Chi HS, Kwon MR, Cho YU, Jang S, Park CJ
- KMID: 2434491
- Ann Lab Med.
- 2012 Nov;32(6):452-454.
No abstract available. -
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- Identification of the ABO*cis-AB04 Allele With a Unique Substitution C796A: The First Case in Korea
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Yoon J, Youk HJ, Chang JH, Jang MA, Choi JH, Nam MH, Choi JS, Lim CS
- KMID: 2373606
- Ann Lab Med.
- 2016 Nov;36(6):620-622.
- doi: 10.3343/alm.2016.36.6.620
No abstract available. -
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- A Case of Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation in a Korean Neonate
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Kwon KA, Park SE, Byun SY, Kim SY, Hwang SH
- KMID: 1714051
- J Korean Med Sci.
- 2010 Aug;25(8):1237-1240.
- doi: 10.3346/jkms.2010.25.8.1237
Congenital central hypoventilation syndrome (CCHS) is a life-threatening disorder with apnea and cyanosis during sleep requiring immediate endotracheal intubation during the first day of life. The PHOX2B gene has been... -
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- Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome
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Shin SJ, Kim M, Chae H, Kwon A, Kim Y, Kim SJ, Yoon HE, Jekarl DW, Lee S
- KMID: 2363175
- Ann Lab Med.
- 2015 Jan;35(1):181-184.
- doi: 10.3343/alm.2015.35.1.181
No abstract available. -
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- A Korean Case of De Novo 18q Deletion Syndrome With a Large Atrial Septal Defect and Cyanosis
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Kim YJ, Park TS, Han MY, Yoon HS, Choi YS
- KMID: 2363195
- Ann Lab Med.
- 2015 Mar;35(2):272-274.
- doi: 10.3343/alm.2015.35.2.272
No abstract available. -
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- New HLA Nomenclature (2010) and Its Clinical Application in Koreans
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Lee KW, Park MH
- KMID: 1781617
- Korean J Lab Med.
- 2010 Jun;30(3):203-217.
- doi: 10.3343/kjlm.2010.30.3.203
Human leukocyte antigen (HLA) gene region encodes a set of HLA molecules functioning critical roles in immune response. Each HLA gene locus shows extensive polymorphism with ever-increasing number of alleles.... -
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- Identification of SLC26A3 Mutations in a Korean Patient with Congenital Chloride Diarrhea
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Lee ES, Cho AR, Ki CS
- KMID: 1380094
- Ann Lab Med.
- 2012 Jul;32(4):312-315.
- doi: 10.3343/alm.2012.32.4.312
Congenital chloride diarrhea (CLD) is an autosomal recessive disorder with the hallmark of persistent watery Cl(-)-rich diarrhea from birth. Mutations in the solute carrier family 26, member 3 (SLC26A3) gene,... -
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- A Case of Familial Juvenile Hyperuricemic Nephropathy with Novel Uromodulin Gene Mutation, a Novel Heterozygous Missense Mutation in Korea
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Lee DH, Kim JK, Oh SE, Noh JW, Lee YK
- KMID: 1779244
- J Korean Med Sci.
- 2010 Nov;25(11):1680-1682.
- doi: 10.3346/jkms.2010.25.11.1680
Familial Juvenile hyperuricemic nephropathy (FJHN, OMIM #162000) is a rare autosomal dominant disorder characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. In most but not... -
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- JAK2 V617F and MPL W515L/K Mutations in Korean Patients with Essential Thrombocythemia
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Kim HJ, Jang JH, Yoo EH, Kim HJ, Ki CS, Kim JW, Kim SH
- KMID: 1022037
- Korean J Lab Med.
- 2010 Oct;30(5):474-476.
- doi: 10.3343/kjlm.2010.30.5.474
JAK2 V617F and MPL W515L/K mutations have been reported in approximately 50% and 5% of the patients with essential thrombocythemia (ET), respectively. We investigated the frequency of MPL W515L/K mutations... -
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