Article
C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies.
International journal of hematology - 1 Dec 2018
Staňo Kozubík Kateřina, Radová Lenka, Pešová Michaela, Réblová Kamila, Trizuljak Jakub, Plevová Karla, Fiamoli Veronika, Gumulec Jaromír, Urbánková Helena, Szotkowski Tomáš, Mayer Jiří, Pospíšilová Šárka, Doubek Michael
Abstract excerpt
Here we report a C-terminal RUNX1 mutation in a family with platelet disorder and predisposition to myeloid malignancies. We identified the mutation c.866delG:p.Gly289Aspfs*22 (NM_001754) (RUNX1 b-isoform NM_001001890; c.785delG:p.Gly262Aspfs*22) using exome sequencing of samples obtained from eight members of a single family. The mutation found in our pedigree is within exon eight and the transactivation domain...
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