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Genotype-Phenotype correlation of SMN locus genes in spinal muscular atrophy patients from India

Kesari A, Idris MM, Chandak GR, Mittal B

  • KMID: 1056225
  • Exp Mol Med.
  • 2005 Jun;37(3):147-154.
Spinal muscular atrophy has been classified into four groups based on the age of onset and clinical severity of the disease. Homozygous deletion in SMN1 gene causes the disease but...
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Association of Variants in PPARgamma2, IGF2BP2, and KCNQ1 with a Susceptibility to Gestational Diabetes Mellitus in a Korean Population

Chon SJ, Kim SY, Cho NR, Min DL, Hwang YJ, Mamura M

PURPOSE: Patients with gestational diabetes mellitus (GDM) have been reported to exhibit the same genetic susceptibility as that observed in those with type 2 diabetes mellitus (T2DM). Recent polymorphism studies...
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Identification of the polymorphisms in IFITM3 gene and their association in a Korean population with ulcerative colitis

Seo GS, Lee JK, Yu JI, Yun KJ, Chae SC, Choi SC

Interferons play critical roles in tumor pathogenesis by controlling apoptosis and through cellular anti-proliferative and differentiation activities. Interferon inducible transmembrane protein (IFITM) family genes have been implicated in several cellular...
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