Products/Services Used | Details | Operation |
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Custom Vector Construction> | A construct designed to encode the alternatively spliced/truncated (p.385_418del, p.Asn385Valfs*7) ETV6 was made by GenScript and cloned into the pCMV-Entry C-terminal Myc/DDK tagged vector. | Get A Quote |
Some familial platelet disorders are associated with predisposition to leukemia, myelodysplastic syndrome (MDS) or dyserythropoietic anemia. We identified a family with autosomal dominant thrombocytopenia, high erythrocyte mean corpuscular volume (MCV) and two occurrences of B cell-precursor acute lymphoblastic leukemia (ALL). Whole-exome sequencing identified a heterozygous single-nucleotide change in ETV6 (ets variant 6), c.641C>T, encoding a p.Pro214Leu substitution in the central domain, segregating with thrombocytopenia and elevated MCV. A screen of 23 families with similar phenotypes identified 2 with ETV6 mutations. One family also had a mutation encoding p.Pro214Leu and one individual with ALL... More