A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients

Published 2017 View Full Article

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Title
A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients
Authors
Keywords
PGM3 deficiency, Congenital disorder of glycosylation, Glu340del founder mutation, Consanguinity
Journal
MOLECULAR IMMUNOLOGY
Volume 90, Issue -, Pages 57-63
Publisher
Elsevier BV
Online
2017-07-10
DOI
10.1016/j.molimm.2017.06.248

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