Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg20159.pdf
Reference14 articles.
1. Grubenmann CE, Frank CG, Hülsmeier AJ et al: Deficiency of the first mannosylkation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. Hum Mol Genet 2004; 13: 535–542.
2. Kranz C, Denecke J, Lehle L et al: Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. Am J Hum Genet 2004; 74: 545–551.
3. Schwartz M, Thiel C, Lübbehusen J et al: Deficiency of GDP-Man:GlcNAc2-PP-Dol mannosyltransferase causes congenital disorder of glycosylation type Ik. Am J Hum Genet 2004; 74: 472–481.
4. Dupré T, Vuillaumier-Barrot S, Chantret I et al: Guanosine diphosphate-mannose:GlcNAc2PP-Dol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. J Med Genet 2010; 47: 729–735.
5. Morava E, Vodopiutz J, Lefeber DJ et al: Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. Pediatrics 2012; 130: e1034–e1039.
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