Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg2014146.pdf
Reference21 articles.
1. Haeuptle MA, Hennet T : Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat 2009; 30: 1628–1641.
2. Al-Owain M, Mohamed S, Kaya N, Zagal A, Matthijs G, Jaeken J : A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report. Orphanet J Rare Dis 2010; 5: 7.
3. Dercksen M, Crutchley AC, Honey EM et al: ALG6-CDG in South Africa: genotype-phenotype description of five novel patients. JIMD Rep 2013; 8: 17–23.
4. Ichikawa K, Kadoya M, Wada Y, Okamoto N : Congenital disorder of glycosylation type Ic: report of a Japanese case. Brain Dev 2013; 35: 586–589.
5. Körner C, Knauer R, Holzbach U, Hanefeld F, Lehle L, von Figura K : Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase. Proc Natl Acad Sci USA 1998; 95: 13200–13205.
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