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  1. No Access

    Article

    The influence of novel transcriptional regulatory element in intron 14 on the expression of Janus kinase 2 gene in myeloproliferative neoplasms

    The expression of Janus kinase 2 (JAK2) gene is altered in myeloproliferative neoplasms (MPN) and the regulation of transcription could be a mechanism that modulates JAK2 gene expression. We analyzed the transcri...

    Vesna Spasovski, Natasa Tosic, Gordana Nikcevic… in Journal of Applied Genetics (2013)

  2. No Access

    Article

    Functional analysis of a novel KLF1 gene promoter variation associated with hereditary persistence of fetal hemoglobin

    Hereditary persistence of fetal hemoglobin (HPFH) is a rare hereditary condition resulting in elevated levels of fetal hemoglobin (HbF) in adults. Typical HPFH is associated with promoter mutations or large de...

    Milena Radmilovic, Branka Zukic, Maja Stojiljkovic Petrovic… in Annals of Hematology (2013)

  3. Article

    Open Access

    Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

    George Patrinos and colleagues report the first implementation of the microattribution approach to systematically document genetic variation associated with a disease, applied here to hemoglobinopathies and th...

    Belinda Giardine, Joseph Borg, Douglas R Higgs, Kenneth R Peterson… in Nature Genetics (2011)

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