Himmelreich, Nastassja <br/><br/>
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.  [electronic resource] 

 -  Human mutation  07 2019 
 - 938-951 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.23764  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>COS Cells<br/>Cells, Cultured<br/>Child, Preschool<br/>Chlorocebus aethiops<br/>Congenital Disorders of Glycosylation--genetics<br/>Female<br/>Humans<br/>Infant<br/>Male<br/>Mannosyltransferases--genetics<br/>Mutation<br/>Open Reading Frames<br/>Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase--deficiency<br/>Polymorphism, Single Nucleotide