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Am J Hum Genet2013；92：575■583. 36） Salian S, et al.：Epileptic encephalopathy caused byARV1 deficiency：Refinement of the genotype■pheno-type spectrum and functional impact on GPI■anchoredproteins Clin Genet 2021；100：607■614. 37） Murakami Y, et al.：Mechanism for release of alkalinephosphatase caused by glycosylphosphatidylinositol defi-ciency in patients with hyperphosphatasia mental retarda-tion syndrome. J Biol Chem 2012；287：6318■6325.18 先天性グリコシルホスファチジルイノシトール（GPI）欠損症89
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