Article

Characterization of Glycosylphosphatidylinositol Biosynthesis Defects by Clinical Features, Flow Cytometry, and Automated Image Analysis

2017-11-13

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Glycosylphosphatidylinositol Biosynthesis Defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway. An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the pheno...

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Literature Corpus work: c45275cc-8068-5172-93db-617b1c56b832
DOI: 10.1101/216291

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