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2)國島伸治.Gray platelet syndromeの原因遺伝子同定.血液フロンティア. 2012; 22: 1112-5
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19)Singleton BK, Roxby DJ, Stirling JW, et al. A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia. Br J Haematol. 2013; 161: 139-42
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21)Kim SM, Chang HK, Song JW, et al. Agranular platelets as a cardinal feature of ARC syndrome. J Pediatr Hematol Oncol. 2010; 32: 253-8
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22)Gissen P, Johnson CA, Morgan NV, et al. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet. 2004; 36: 400-4
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28)Bénit L, Cramer EM, Massé JM, et al. Molecular study of the hematopoietic zinc finger gene in three unrelated families with gray platelet syndrome. J Thromb Haemost. 2005; 3: 2077-80
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29)Maynard DM, Heijnen HF, Gahl WA, et al. The α-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome. J Thromb Haemost. 2010; 8: 1786-96
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31)Fabbro S, Kahr WH, Hinckley J, et al. Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly. Blood. 2011; 117: 3430-4
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32)Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, et al. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. Nat Genet. 2011; 43: 732-4
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33)Kahr WH, Hinckley J, Li L, et al. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet. 2011; 43: 738-40
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34)Albers CA, Cvejic A, Favier R, et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet. 2011; 43: 735-7
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36)Kahr WH, Lo RW, Li L, et al. Abnormal megakaryocyte development and platelet function in Nbeal2(-/-) mice. Blood. 2013; 122: 3349-58
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37)Deppermann C, Cherpokova D, Nurden P, et al. Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice. J Clin Invest. 2013; 123: 3331-42
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38)Bottega R, Pecci A, De Candia E, et al. Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency. Haematologica. 2013; 98: 868-74
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39)Stevenson WS, Morel-Kopp MC, Chen Q, et al. GFI1B mutation causes a bleeding disorder with abnormal platelet function. J Thromb Haemost. 2013; 11: 2039-47
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40)Monteferrario D, Bolar NA, Marneth AE, et al. A dominant-negative GFI1B mutation in the gray platelet syndrome. N Engl J Med. 2014; 370: 245-53
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