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Twins With an Identical Novel Mutation in ITGB3 : A Case Report of Glanzmann Thrombasthenia–like Syndrome

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참고문헌 (10)

  1. Nurden AT, "Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models", Blood, 118, pp.5996~6005 (2011)
  2. Morais S, "αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia : expanding the mutational and clinical spectrum", PLoS One, 15, pp.e0235136~ (2020)
  3. Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
  4. Ulmer TS, "Structural basis of transmembrane domain interactions in integrin signaling", Cell Adh Migr, 4, pp.243~248 (2010)
  5. Park KJ, "Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia", Pediatr Blood Cancer, 59, pp.335~338 (2012)
  6. Chen YP, "Ser-752-->Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3(glycoprotein IIb-IIIa)in a variant of Glanzmann thrombasthenia", Proc Natl Acad Sci U S A, 89, pp.10169~10173 (1992)
  7. Ghevaert C, "A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia", Blood, 111, pp.3407~3414 (2008)
  8. Gresele P, "Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families", Haematologica, 94, pp.663~669 (2009)
  9. Jayo A, "L718P mutation in the membrane-proximal cytoplasmic tail of beta 3 promotes abnormal alpha IIb beta 3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotype", Haematologica, 95, pp.1158~1166 (2010)
  10. Nurden P, "An intracytoplasmic β3 Leu718 deletion in a patient with a novel platelet phenotype", Blood Adv, 1, pp.494~499 (2017)

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