Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

Title
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors
Authors
Keywords
PIGT-CDG, Congenital disorder of glycosylation, Glycosylphosphatidylinositol anchor, Phenotype, Flow cytometry, Exome
Journal
MOLECULAR GENETICS AND METABOLISM
Volume 115, Issue 2-3, Pages 128-140
Publisher
Elsevier BV
Online
2015-05-03
DOI
10.1016/j.ymgme.2015.04.007

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