A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies - PubMed (original) (raw)

A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies

Keita Kirito et al. Haematologica. 2008 Jan.

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Abstract

We describe a Japanese family with familial platelet disorder with propensity to develop myeloid malignancies (FPD/MM). Among the three affected individuals, two members developed myeloid malignancies. Sequence studies demonstrate that all affected individuals of the pedigree display a heterozygous single nucleotide deletion in exon 8 of the RUNX1 gene.

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