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Literature DB >> 18166807

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

Keita Kirito, Kumi Sakoe, Daisuke Shinoda, Yoshihisa Takiyama, Kenneth Kaushansky, Norio Komatsu.

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.

Entities: Disease Gene

Mesh：

Substances：

Year: 2008 PMID： 18166807 DOI： 10.3324/haematol.12050

Source DB: PubMed Journal: Haematologica ISSN： 0390-6078 Impact factor: 9.941

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Cited

10 in total

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