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A Case of Inherited Glycosylphosphatidylinositol Deficiency Caused by PGAP3 Variant with Uniparental Isodisomy on Chromosome 17

Takeo Mukai,Shota Kato,Hiroyuki Tanaka,Yukiko Kuroda,Hiroki Kitaoka,Atsushi Ito,Yoshihiko Shitara,Kohei Kashima,Hirokazu Takami,Naoto Takahashi,Motohiro Kato

MOLECULAR GENETICS & GENOMIC MEDICINE（2024）

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Key words
chromosome 17,HPMRS,inherited glycosylphosphatidylinositol deficiency,PGAP3,uniparental isodisomy
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