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

Takeo MukaiShota KatoHiroyuki TanakaYukiko KurodaHiroki KitaokaAtsushi ItoYoshihiko ShitaraKohei KashimaHirokazu TakamiNaoto TakahashiMotohiro Kato

Published in: Molecular genetics & genomic medicine (2024)

This is the first report of inherited GPI deficiency caused by UPiD. Inherited GPI deficiency must be considered in patients with unexplained hyperphosphatasemia.

Keyphrases

replacement therapy
gene expression
smoking cessation
genome wide