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A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17.

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Bibliographic Details
Title: A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17.
Authors: Mukai, Takeo1 (AUTHOR) takeo‐m@ims.u‐tokyo.ac.jp, Kato, Shota1 (AUTHOR), Tanaka, Hiroyuki1 (AUTHOR), Kuroda, Yukiko1 (AUTHOR), Kitaoka, Hiroki1 (AUTHOR), Ito, Atsushi1 (AUTHOR), Shitara, Yoshihiko1 (AUTHOR), Kashima, Kohei1 (AUTHOR), Takami, Hirokazu2 (AUTHOR), Takahashi, Naoto1 (AUTHOR), Kato, Motohiro1 (AUTHOR)
Source: Molecular Genetics & Genomic Medicine. Jul2024, Vol. 12 Issue 7, p1-6. 6p.
Database: Academic Search Ultimate
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Description
ISSN:23249269
DOI:10.1002/mgg3.2452