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Keywords: FLJ14813
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Hum Hered (2003) 55 (1): 66–70.
Published Online: 06 August 2003
... and incomplete differentiation of megakaryocytes. We report here a novel missense mutation in the human gene FLJ14813 that segregates perfectly with thrombocytopenia in our kindred of 51 family members. The mutation is not detected in 94 random unrelated and unaffected individuals, nor is it reported...