- 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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- SPINK1 N34S Mutation as a Possible Cause of Chronic Pancreatitis in a Patient with Familial Background
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Oh HC, Lee TY, Kwon S, Lee SS, Seo DW, Lee SK, Kim MH
- KMID: 782875
- Korean J Gastroenterol.
- 2007 Jun;49(6):384-389.
New insight in the field of chronic pancreatitis was provided by the discovery of protease serine 1 (PRSS1) mutation, inherited by autosomal dominant trait in hereditary pancreatitis. Serine protease inhibior,... -
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- Three Cases of Hereditary Pancreatitis in Two Households in the Same Family Associated with R122H Mutation in Cationic Trypsinogen Gene
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Lee TY, Oh HC, Kim MH, Kwon S, Lee SS, Seo DW, Lee SK
- KMID: 782877
- Korean J Gastroenterol.
- 2007 Jun;49(6):395-399.
Hereditary pancreatitis is a rare, autosomal dominant, inherited disease characterized by recurrent attacks of acute pancreatitis with the development of chronic pancreatitis and an increased risk of pancreatic cancer. R122H... -
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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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- X-linked Opitz G/BBB Syndrome: Identification of a Novel Mutation and Prenatal Diagnosis in a Korean Family
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Cho HJ, Shin MY, Ahn KM, Lee SI, Kim HJ, Ki CS, Kim JW
- KMID: 1781893
- J Korean Med Sci.
- 2006 Oct;21(5):790-793.
- doi: 10.3346/jkms.2006.21.5.790
X-linked Opitz G/BBB syndrome (XLOS; MIM 300000) is a rare multiple congenital anomaly disorder that is characterized by facial anomalies, laryngeal/tracheal/esophageal defects and genitourinary abnormalities. XLOS is caused by mutations... -
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- A Study of Polymorphism in UDP-glucuronosyltransferase 1 (UGT-1A1) Promoter Gene in Korean Patients with Gilbert's Syndrome
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Kim YH, Yeon JE, Jung GM, Kim HJ, Kim JS, Byun KS, Bak YT, Lee CH
- KMID: 1123162
- Korean J Hepatol.
- 2002 Jun;8(2):132-138.
BACKGROUNDS/AIMS: Hepatic glucuronidating activity, essential for efficient biliary excretion of bilirubin, is reduced to about 30 percent of normal in patients with Gilbert's syndrome. Patients with Gilbert's syndrome have an... -
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- Point mutation at codon 12 of the c-Ha-ras gene in human gastric cancers.
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Koh EH, Chung HC, Lee KB, Han EK, Oh SH, Min JS, Choi EM, Youn JK, Kim BS
- KMID: 1421899
- J Korean Med Sci.
- 1992 Jun;7(2):110-115.
- doi: 10.3346/jkms.1992.7.2.110
The molecular mechanisms of the carcinogenic process of gastric cancer have not been fully understood yet. In order to know whether c-Ha-ras gene is being involved in the process... -
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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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- Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis
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Ko JM, Kim GH, Kim KM, Hong SJ, Yoo HW
- KMID: 1783084
- J Korean Med Sci.
- 2008 Oct;23(5):912-915.
- doi: 10.3346/jkms.2008.23.5.912
Cystic fibrosis (CF) is the most common lethal autosomal recessive disease in Caucasians, but rare in Asians. The mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene are responsible for... -
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- A Familial Case of Wiskott-Aldrich Syndrome with a Hotspot Mutation in Exon 2 of the WAS Gene
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Park SK, Kim CS, Song DK, Kim JY, Choi IJ, Kim DK
- KMID: 1785760
- J Korean Med Sci.
- 2007 Dec;22(6):998-1001.
- doi: 10.3346/jkms.2007.22.6.998
The Wiskott-Aldrich syndrome (WAS) is a severe X-linked disorder characterized classically by thrombocytopenia, immunodeficiency, and eczema. The phenotype observed in this syndrome is caused by mutation in the WAS gene.... -
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- Cationic Trypsinogen Gene Mutation in Patients with Chronic Idiopathic Pancreatitis
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Lee WJ, Kim KA, Lee JS, Jeon YB, Jeong JB, Ryu JK, Kim YT, Yoon YB, Kim CY
- KMID: 1111508
- Korean J Gastroenterol.
- 2004 Jan;43(1):41-46.
BACKGROUND/AIMS: Mutation of Cationic trypsinogen gene is clearly associated with hereditary pancreatitis and plays an important role in the pathogenesis of pancreatitis. According to literature, this mutation is occasionally... -
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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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- Haplotype analysis and possible founder effect at the R778L mutation of the ATP7B gene in Korean patients with Wilson's disease
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Bae SH, Kim JW, Seo JK
- KMID: 1374959
- Korean J Hepatol.
- 2009 Sep;15(3):309-319.
- doi: 10.3350/kjhep.2009.15.3.309
BACKGROUND/AIMS: Wilson's disease (WD) is an inherited disorder of copper metabolism caused by alteration of the P-type adenosine triphosphatase (ATP) 7B gene. In this study, we analyzed the frequency of... -
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- Hereditary Palmoplantar Keratoderma and Deafness Resulting from Genetic Mutation of Connexin 26
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Lee JY, In SI, Kim HJ, Jeong SY, Choung YH, Kim YC
- KMID: 2157865
- J Korean Med Sci.
- 2010 Oct;25(10):1539-1542.
- doi: 10.3346/jkms.2010.25.10.1539
Gap junctions, which mediate rapid intercellular communication, consist of connexins, small transmembrane proteins that belong to a large family of proteins found throughout the species. Mutations in the GJB2 gene,... -
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- A novel PRKAR1A mutation resulting in a splicing variant in a case of Carney complex
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Jang YS, Moon SD, Kim JH, Lee IS, Lee JM, Kim HS
- KMID: 2381573
- Korean J Intern Med.
- 2015 Sep;30(5):730-734.
- doi: 10.3904/kjim.2015.30.5.730
No abstract available. -
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- Two Novel Mutations in the C7 gene in a Korean Patient with Complement C7 Deficiency
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Ki CS, Kim JW, Kim HJ, Choi SM, Ha GY, Kang HJ, Kim WD
- KMID: 1095193
- J Korean Med Sci.
- 2005 Apr;20(2):220-224.
- doi: 10.3346/jkms.2005.20.2.220
Complement C7 deficiency is an autosomal recessive disorder well known to be associated with increased susceptibility to meningococcal infection and has mostly been reported in Caucasians. In the Korean population,... -
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- Identification of a Dysferlin Gene Mutation in a Korean Case with Miyoshi Myopathy
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Oh SH, Kim TS, Choi YC
- KMID: 1103918
- Yonsei Med J.
- 2004 Oct;45(5):927-930.
- doi: 10.3349/ymj.2004.45.5.927
Recent genetic and immunohistochemical analyses have shown that Miyoshi myopathy (MM) is caused by a mutation in the DYSF gene, which induces dysfunction of dysferlin. The author described one patient... -
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- A Case Report of Familial Benign Hypocalciuric Hypercalcemia: A Mutation in the Calcium-Sensing Receptor Gene
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Woo SI, Song H, Song KE, Kim DJ, Lee KW, Kim SJ, Chung YS
- KMID: 1110751
- Yonsei Med J.
- 2006 Apr;47(2):255-258.
- doi: 10.3349/ymj.2006.47.2.255
Familial benign hypocalciuric hypercalcemia (FBHH) is an autosomal dominant trait with high penetrance, clinically manifestating a relatively benign, lifelong, persistent hypercalcemia and hypocalciuria without hypercalcemic related complications. The calcium-sensing receptor... -
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- PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets
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Song HR, Park JW, Cho DY, Yang JH, Yoon HR, Jung SC
- KMID: 1785757
- J Korean Med Sci.
- 2007 Dec;22(6):981-986.
- doi: 10.3346/jkms.2007.22.6.981
X-linked hypophosphatemic rickets (XLH) results from mutations in the PHEX gene. Mutational analysis of the PHEX gene in 15 unrelated Korean patients with hypophosphatemic rickets revealed eight mutations, including five... -
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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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