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Validation of Pathogenicity of Gene Variants in Fanconi Anemia Using Patient-derived Dermal Fibroblasts

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참고문헌 (9)

  1. Auerbach AD, "Fanconi anemia and its diagnosis", Mutat Res, 668, pp.4~10 (2009)
  2. Niedernhofer LJ, "Fanconi anemia(cross)linked to DNA repair", Cell, 123, pp.1191~1198 (2005)
  3. Knipscheer P, "The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair", Science, 326, pp.1698~1701 (2009)
  4. Ceccaldi R, "The Fanconi anaemia pathway : new players and new functions", Nat Rev Mol Cell Biol, 17, pp.337~349 (2016)
  5. Oostra AB, "Diagnosis of fanconi anemia : chromosomal breakage analysis", Anemia, 2012, pp.238731~ (2012)
  6. Matsushita N, "A FancD2-monoubiquitin fusion reveals hidden functions of Fanconi anemia core complex in DNA repair", Mol Cell, 19, pp.841~847 (2005)
  7. Hwa Jeen Lee, "A Case Report of Fanconi Anemia Diagnosed by Genetic Testing Followed by Prenatal Diagnosis", Annals of Laboratory Medicine, 32(5), pp.380~384 (2012), 대한진단검사의학회
  8. "Fanconi Anemia Mutation Database" (2022)[URL]
  9. De Rocco D, "Molecular analysis of Fanconi anemia : the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology", Haematologica, 99, pp.1022~ (2014)

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