Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

Published 2019 View Full Article

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Title
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies
Authors
Keywords
GPIBD, PIGU, inherited GPI deficiency, glycosylphosphatidylinositol, epilepsy, multicolor flow cytometry, automated facial analysis, deep phenotyping
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 105, Issue 2, Pages 395-402
Publisher
Elsevier BV
Online
2019-07-25
DOI
10.1016/j.ajhg.2019.06.009

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