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    Journal Articles

    Release of Alkaline Phosphatase Caused by PIGV Mutations In Patients with Hyperphosphatasia-Mental Retardation Syndrome (HPMR), a Recently Found Second Inherited GPI Anchor Deficiency.

    Yoshiko Murakami, MD, PhD, Peter M Krawitz, MD, PhD, Peter N Robinson, MD, PhD, Stefan Mundlos, MD, PhD, Yusuke Maeda, MD, PhD, Taroh Kinoshita, PhD
    Journal: Blood
    Blood (2010) 116 (21): 2031.
    https://doi.org/10.1182/blood.V116.21.2031.2031
    Published: 2010
    Journal Articles

    GATA-1 Enhances the Transcription of PIGM and Is Responsible for Increased GPI Expression in Erythrocytes in Inherited Glycosylphosphatidylinositol Deficiency: A Model for Tissue-Specific Housekeeping Gene Transcription Regulation

    Joana S Costa, Madalena Nolasco, Antonio M Almeida, Irene Roberts, Mark Layton, Anastasios Karadimitris
    Journal: Blood
    Blood (2008) 112 (11): 3443.
    https://doi.org/10.1182/blood.V112.11.3443.3443
    Published: 2008

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