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

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

Abstract Background Inherited glycosylphosphatidylinositol (GPI) deficiency is an autosomal recessive disease and a set of syndromes caused by different genes involved in the biosynthesis of phosphatidylinositol characterized by severe cognitive disability, elevated serum alkaline phosphatase (ALP)...

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Bibliographic Details
Main Authors: Takeo Mukai, Shota Kato, Hiroyuki Tanaka, Yukiko Kuroda, Hiroki Kitaoka, Atsushi Ito, Yoshihiko Shitara, Kohei Kashima, Hirokazu Takami, Naoto Takahashi, Motohiro Kato
Format: Article
Language:English
Published: Wiley 2024-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
chromosome 17
HPMRS
inherited glycosylphosphatidylinositol deficiency
PGAP3
uniparental isodisomy
Online Access:https://doi.org/10.1002/mgg3.2452

Internet

https://doi.org/10.1002/mgg3.2452

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