- Two Novel Insulin Receptor Gene Mutations in a Patient with Rabson-Mendenhall Syndrome: The First Korean Case Confirmed by Biochemical, and Molecular Evidence
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Kim D, Cho SY, Yeau SH, Park SW, Sohn YB, Kwon MJ, Kim JY, Ki CS, Jin DK
- KMID: 1372803
- J Korean Med Sci.
- 2012 May;27(5):565-568.
- doi: 10.3346/jkms.2012.27.5.565
Rabson-Mendenhall syndrome (RMS) is a rare syndrome manifested by extreme insulin resistance with hyperinsulinemia, acanthosis nigricans, tooth dysplasia and growth retardation. Our patient was first noted at the age of... -
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- The Effect of Parental Imprinting on the INS-IGF2 Locus of Korean Type I Diabetic Patients
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Kim HS, Lee DW, Lee SJ, Choi BH, Chang SI, Yoon HD, Lee IK
- KMID: 759564
- Korean J Intern Med.
- 2001 Dec;16(4):223-229.
BACKGROUND: Insulin-dependent diabetes mellitus (IDDM) is caused by the autoimmune destruction of pancreatic beta-cells. Susceptibility to IDDM appears to depend on more than one genetic locus. Evidence of a genetic... -
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