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  1. T Cell Transcriptomes from Paroxysmal Nocturnal Hemoglobinuria Patients Reveal Novel Signaling Pathways

    ... thrombosis . The etiology of PNH is a somatic mutation in the phosphatidylinositol glycan class A gene (PIG-A) on the X ...

    Research Article last updated 07/11/2017 - 10:43am.

  2. Making Progress for Myelodysplastic Syndromes

    ... sideroblasts or a certain gene splicing mutations, SF3B1 mutation . Other studies are testing drugs that can target the IDH2 mutation. They have been tested in leukemias and in subsets of patients with ...

    Article last updated 07/26/2017 - 10:25am.

  3. Distinct mutation profile and prognostic relevance in patients with hypoplastic myelodysplastic syndromes (h-MDS)

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    Research Article last updated 09/19/2016 - 11:07am.

  4. New Insight Into the Biology, Risk Stratification, and Targeted Treatment of Myelodysplastic Syndromes

    ... Although many MDS cases harbor more than one somatic mutation , in general, there is mutual exclusivity of mutated genes within a ...

    Research Article last updated 06/26/2017 - 9:16am.

  5. From Patient to PhD Candidate

    ... gene is often mutated in AML patient genomes, and this mutation is responsible for malignant reduction of blood lineages. Thus, ...

    Patient Chronicle last updated 06/12/2017 - 2:59pm.

  6. Impact of TP53 mutation variant allele frequency on phenotype and outcomes in myelodysplastic syndromes

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    Research Article last updated 12/08/2015 - 1:04pm.

  7. The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria

    ... sequencing screen identified a single nonsense PIGA mutation , c.1234C>T, which predicts p.Arg412(∗). This variant segregated ... The genetic data show that the c.1234C>T (p.Arg412(∗)) mutation is present in an affected child, is linked to the affected chromosome ...

    Research Article last updated 07/30/2012 - 2:24pm.

  8. Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria

    ... within the PIGA-mutant population, or prior to PIGA mutation . Together, our data indicate that in addition to PIGA mutations, ...

    Research Article last updated 10/02/2014 - 8:24am.

  9. The relationship of TP53 R72P polymorphism to disease outcome and TP53 mutation in myelodysplastic syndromes

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    Research Article last updated 04/08/2015 - 11:21am.

  10. Combining gene mutation with gene expression data improves outcome prediction in myelodysplastic syndromes

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    Research Article last updated 03/02/2015 - 1:43pm.