- Analysis of low - density - lipoprotein receptor gene in Korean patients with familial hypercholesterolemia
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Kim HS, Chae IH, Park YB, Choe SC, Han KH, Chae JJ, Kim SH
- KMID: 2143091
- Korean J Med.
- 1999 Nov;57(5):881-895.
Familial hypercholesterolemia (FH) is a common autosomal dominant disorder caused by a defect in the low-density-lipoprotein (LDL) receptor, disrupting the normal control of cholesterol metabolism. We have collected 86 FH families for... -
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- Familial Mediterranean fever presenting as fever of unknown origin in Korea
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Lee JH, Kim JH, Shim JO, Lee KC, Lee JW, Lee JH, Chae JJ
- KMID: 2362255
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S53-S56.
- doi: 10.3345/kjp.2016.59.11.S53
Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis,... -
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