Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings

Sara Missaglia, Elisabetta Tasca, Corrado Angelini, Laura Moro, Daniela Tavian
  • Molecular Genetics and Metabolism, June 2015, Elsevier
  • DOI: 10.1016/j.ymgme.2015.05.001

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The following have contributed to this page: Prof Corrado Angelini