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Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism
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  • Published on:
    Re:The putative role of Podxl in autosomal-recessive juvenile Parkinsonism

    Response to e letter ID jmedgenet el; 2826 by Refaeli et al., dated June14, 2016 A considerable amount of literature on the role of podocalyxin-like (PODXL) protein in normal mammalian kidney functions and to a lesser extent in mouse brain development is available. We agree that these studies particularly, "Anuria, Omphalocele, and Perinatal Lethality in Mice Lacking the Cd34-Related Protein Podocalyxin" by Doyonnas et...

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    Conflict of Interest:
    None declared.
  • Published on:
    The putative role of Podxl in autosomal-recessive juvenile Parkinsonism
    • Kelly M McNagny, Professor and Director
    • Other Contributors:
      • Ido Refaeli, Michael R. Hughes, Moses Lee and Murim Choi

    Re:

    Sudhaman, et al. Discovery of a frameshift mutation in podocalyxin- like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism. J Med Genet. 0:1-7, 2016.

    In the February 2016 edition of the Journal of Medical Genetics, Sudhaman et al(1) report the identification of a PODXL variant (c.89_90insGTCGCCCC) as the causative mutation in an Indian fam...

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    Conflict of Interest:
    None declared.