A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies
oleh: Keita Kirito, Kumi Sakoe, Daisuke Shinoda, Yoshihisa Takiyama, Kenneth Kaushansky, Norio Komatsu
| Format: | Article |
|---|---|
| Diterbitkan: | Ferrata Storti Foundation 2008-01-01 |
Deskripsi
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.