| 1 | FMST, KIT
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| A c-kit mutation in exon 18 in familial mastocytosis.
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| Wöhrl S, Moritz KB, Bracher A, Fischer G, Stingl G, Loewe R.
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| J Invest Dermatol 133(3):839-41. doi: 10.1038/jid.2012.394. Epub 2012 Nov 29. No abstract available.
2013
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| 2 | KIT, FMST, FGIST
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| Novel germline mutation of KIT associated with familial gastrointestinal stromal tumors and mastocytosis.
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| Hartmann K, Wardelmann E, Ma Y, Merkelbach-Bruse S, Preussner LM, Woolery C, Baldus SE, Heinicke T, Thiele J, Buettner R, Longley BJ.
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| Gastroenterology 129(3):1042-6. 2005
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| 3 | KIT, FMST, FGIST
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| Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation.
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| Carballo M, Roig I, Aguilar F, Pol MA, Gamundi MJ, Hernan I, Martinez-Gimeno M.
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| Am J Med Genet A 132(4):361-4. 2005
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| 4 | KIT, FGIST, FMST
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| Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia.
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| Robson ME, Glogowski E, Sommer G, Antonescu CR, Nafa K, Maki RG, Ellis N, Besmer P, Brennan M, Offit K.
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| Clin Cancer Res 10(4):1250-4. 2004
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| 5 | KIT, FMST, FGIST
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| Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa.
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| Beghini A, Tibiletti MG, Roversi G, Chiaravalli AM, Serio G, Capella C, Larizza L.
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| Cancer 92(3):657-62. 2001
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| 6 | KIT, FMST
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| Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis.
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| Longley BJ, et al.
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| Proc Natl Acad Sci U S A 96 : 1609-1614. 1999
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| 7 | KIT, FMST
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| Clinical correlates of the presence of the Asp816Val c-kit mutation in the peripheral blood mononuclear cells of patients with mastocytosis.
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| Worobec AS, et al.
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| Cancer 83 : 2120-2129. 1998
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| 8 | KIT, FMST
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| A new c-kit mutation in a case of aggressive mast cell disease.
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| Pignon JM, et al.
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| Br J Haematol 96 : 374-376. 1997
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| 9 | KIT, FMST
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| Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis : establishment of clonality in a human mast cell neoplasm.
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| Longley BJ, et al.
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| Nat Genet 12 : 312-314. 1996
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| 10 | KIT, FMST
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| Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder.
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| Nagata H, Worobec AS, Oh CK, Chowdhury BA, Tannenbaum S, Suzuki Y, Metcalfe DD.
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| Proc Natl Acad Sci U S A 92 : 10560-10564. 1995
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