- A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis
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Koh HJ, Jwa NS, Kim SS, Lee SC, Kwon OW
- KMID: 1099074
- Korean J Ophthalmol.
- 2006 Mar;20(1):62-64.
- doi: 10.3341/kjo.2006.20.1.62
PURPOSE: To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. METHODS: Observation case report of a family with a proband with... -
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- Resistance to Thyroid Hormone with Missense Mutation (V349M) in the Thyroid Hormone Receptor Beta Gene
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Kim JY, Choi ES, Lee JC, Lee KU, Kim YJ, Kim SJ, Lee YW
- KMID: 1382662
- Korean J Intern Med.
- 2008 Mar;23(1):45-48.
- doi: 10.3904/kjim.2008.23.1.45
Resistance to thyroid hormone (RTH) is a syndrome characterized by reduced sensitivity to the thyroid hormone. It is generally caused by mutations in the thyroid hormone receptor beta (TRbeta) 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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- A MELAS syndrome family harboring two mutations in mitochondrial genome
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Choi BO, Hwang JH, Kim J, Cho EM, Cho SY, Hwang SJ, Lee HW, Kim SJ, Chung KW
- KMID: 756338
- Exp Mol Med.
- 2008 Jun;40(3):354-360.
- doi: 10.3858/emm.2008.40.3.354
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a genetically heterogeneous mitochondrial disorder with variable clinical symptoms. Here, from the sequencing of the entire mitochondrial genome, we... -
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- A Case of Korean Patient with Macular Corneal Dystrophy Associated with Novel Mutation in the CHST6 Gene
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Lee YK, Chang DJ, Chung SK
- KMID: 1792082
- Korean J Ophthalmol.
- 2013 Dec;27(6):454-458.
- doi: 10.3341/kjo.2013.27.6.454
To report a novel mutation within the CHST6 gene, as well as describe light and electron microscopic features of a case of macular corneal dystrophy. A 59-year old woman with... -
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- A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia
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Kim MK, Park MS, Kim BC, Cho KH, Kim YS, Kim JH, Lee MC, Heo T, Kim EY
- KMID: 1712752
- J Korean Med Sci.
- 2005 Aug;20(4):670-673.
- doi: 10.3346/jkms.2005.20.4.670
The neuronal migration disorders, X-linked lissencephaly syndrome (XLIS) and subcortical band heterotopia (SBH), also called "double cortex", have been linked to missense, nonsense, aberrant splicing, deletion, and insertion mutations in... -
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- A Novel Mutation (A148V) in the Glucose 6-phosphate Translocase (SLC37A4) Gene in a Korean Patient with Glycogen Storage Disease Type 1b
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Han SH, Ki CS, Lee JE, Hong YJ, Son BK, Lee KH, Choe YH, Lee SY, Kim JW
- KMID: 1778514
- J Korean Med Sci.
- 2005 Jun;20(3):499-501.
- doi: 10.3346/jkms.2005.20.3.499
We report a Korean patient with glycogen storage disease type 1b (GSD-1b) whose diagnosis was confirmed by liver biopsy and laboratory results. The patient presented with delay of puberty and... -
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- A Novel UMOD Mutation (c.187T>C) in a Korean Family with Juvenile Hyperuricemic Nephropathy
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Lee MN, Jun JE, Kwon GY, Huh WS, Ki CS
- KMID: 1707239
- Ann Lab Med.
- 2013 Jul;33(4):293-296.
- doi: 10.3343/alm.2013.33.4.293
Familial juvenile hyperuricemic nephropathy (FJHN; OMIM 162000) is an autosomal dominant disorder characterized by hyperuricemia and gouty arthritis due to reduced kidney excretion of uric acid and progressive renal failure.... -
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- Molecular Analysis of Isoleucyl-tRNA Synthetase Mutations in Clinical Isolates of Methicillin-Resistant Staphylococcus aureus with Low-Level Mupirocin Resistance
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Yang JA, Park DW, Sohn JW, Yang IS, Kim KH, Kim MJ
- KMID: 1781900
- J Korean Med Sci.
- 2006 Oct;21(5):827-832.
- doi: 10.3346/jkms.2006.21.5.827
Emergence and spread of low-level mupirocin resistance in staphylococci have been increasingly reported in recent years. The aim of this study was to characterize missense mutations within the chromosomal isoleucyl-tRNA... -
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- A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis
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Ko JS, Choi BS, Seo JK, Shin JY, Chae JH, Kang GH, Lee R, Ki CS, Kim JW
- KMID: 1713850
- J Korean Med Sci.
- 2010 Jan;25(1):159-162.
- doi: 10.3346/jkms.2010.25.1.159
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome caused by a defect in cholesterol biosynthesis. The incidence is very low in Asians and only one case has been reported... -
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- Investigation of von Willebrand Factor Gene Mutations in Korean von Willebrand Disease Patients
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Song J, Choi JR, Song KS
- KMID: 1781479
- Korean J Lab Med.
- 2007 Jun;27(3):169-176.
- doi: 10.3343/kjlm.2007.27.3.169
BACKGROUND: We intended to find the mutations of von Willebrand factor (VWF) gene as the most important contributing factor of von Willebrand disease (VWD) in Korean patients. METHODS: In... -
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- Non-Type I Cystinuria Associated with Mental retardation and Ataxia in a Korean Boy with a New Missence Mutation(G173R) in the SLC7A9 Gene
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Lee EH, Kim YH, Hwang JS, Kim SH
- KMID: 1713853
- J Korean Med Sci.
- 2010 Jan;25(1):172-175.
- doi: 10.3346/jkms.2010.25.1.172
Cystinuria is an inherited renal and intestinal disease characterized by defective amino acids reabsorption and cystine urolithiasis. It is unusually associated with neurologic symptoms. Mutations in two genes, SLC3A1 and... -
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- A Korean Family with Arg1448Cys Mutation of SCN4A Channel Causing Paramyotonia Congenita: Electrophysiologic, Histopathologic, and Molecular Genetic Studies
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Kim DS, Kim EJ, Jung DS, Park KH, Kim IJ, Kwak KY, Kim CM, Ko HY
- KMID: 648803
- J Korean Med Sci.
- 2002 Dec;17(6):856-860.
- doi: 10.3346/jkms.2002.17.6.856
A family with paramyotonia congenita (PC) is presented. At least 10 family members were affected in an autosomal dominant inheritance pattern. The proband had cold-sensitive muscle stiffness, paradoxical myotonia,... -
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- Plasmodium vivax dhfr Mutations among Isolates from Malarious Areas of Iran
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Zaman J, Shahbazi A, Asgharzadeh M
- KMID: 1090611
- Korean J Parasitol.
- 2011 Jun;49(2):125-131.
- doi: 10.3347/kjp.2011.49.2.125
The use of sulfadoxine and pyrimethamine (SP) for treatment of vivax malaria is uncommon in most malarious areas, but Plasmodium vivax isolates are exposed to SP because of mixed infections... -
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- Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation
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Chung KW, Kim SB, Cho SY, Hwang SJ, Park SW, Kang SH, Kim J, Yoo JH, Choi BO
- KMID: 756332
- Exp Mol Med.
- 2008 Jun;40(3):304-312.
- doi: 10.3858/emm.2008.40.3.304
Distal hereditary motor neuropathy (dHMN) is a heterogeneous disorder characterized by degeneration of motor nerves in the absence of sensory abnormalities. Recently, mutations in the small heat shock protein 27... -
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