- 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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- A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22
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Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong MW, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Kim S, Lee YJ, Nam SO, Lim BC
- KMID: 2425993
- Ann Lab Med.
- 2017 Nov;37(6):516-521.
- doi: 10.3343/alm.2017.37.6.516
BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found in... -
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- Hereditary Breast Cancer in Korea: A Review of the Literature
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Son BH, Ahn SH, Lee MH, Park SK, Kim SW, Korean Breast Cancer Society
- KMID: 2175041
- J Breast Cancer.
- 2008 Mar;11(1):1-9.
- doi: 10.4048/jbc.2008.11.1.1
Hereditary breast carcinomas associated with BRCA1/2 mutations have unique clinicopathological and epidemiological characteristics. The objective of this study is to outline the prevalence, founder effect and clinicopathological characteristics of BRCA1/2... -
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- Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea
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Kim HJ, Park CH, Kim HJ, Lee KO, Won HH, Ko MH, Chu H, Cho YS, Chung WH, Kim JW, Hong SH
- KMID: 1460591
- Clin Exp Otorhinolaryngol.
- 2010 Jun;3(2):65-69.
- doi: 10.3342/ceo.2010.3.2.65
OBJECTIVES: Hearing impairment (HI) is the most common sensory deficit in human. The Gap Junction Protein, Beta-2 (GJB2) gene encodes the protein connexin 26, and this gene accounts for up... -
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- Pterin & DHPR measurement and DNA analysis in Korean PKU patients
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Chong CH, Lee HY, Lee DH, Lee SJ, Cha KW, Yim JB, Okano Y
- KMID: 2208554
- J Korean Pediatr Soc.
- 1993 Dec;36(12):1681-1690.
Phenylketonuria is metabolic disorder that results from a deficiency of the hepatic phenylalanine hydroxylase. But among patients with hyperphenylalaninemia, the defect resides in one of the enzymes necessary for production... -
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