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Frequency Analysis of NOD2 Gene Mutations in Korean Patients with Crohn's Disease

Lee GH, Kim CG, Kim JS, Jung HC, Song IS

  • KMID: 1767491
  • Korean J Gastroenterol.
  • 2005 Mar;45(3):162-168.
BACKGROUND/AIMS: Several studies from Western populations have recently shown that three mutations in NOD2 gene (C2104T, G2722C, and 3020insC) are associated with susceptibility to Crohn's disease (CD). However, three mutations...
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Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation

Chung KW, Kim SB, Cho SY, Hwang SJ, Park SW, Kang SH, Kim J, Yoo JH, Choi BO

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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Expression and Regulation of Latent TGF-beta Binding Protein-1 Transcripts and Their Splice Variants in Human Glomerular Endothelial Cells

Kwak JH, Woo JS, Shin K, Kim HJ, Jeong HS, Han DC, Kim SI, Park CS

Latent transforming growth factor (TGF)-beta-binding protein (LTBP) is required for the assembly, secretion, matrix association, and activation of latent TGF-beta complex. To elucidate the cell specific expression of the genes...
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