Congenital disorder of glycosylation (CDG) Ig: Report on a patient and review of the literature
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-005-0137-3
Reference5 articles.
1. Chantret I, Dupre T, Delenda C, et al (2002) Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. J Biol Chem 277: 25815–25822.
2. Eklund EA, Newell JW, Sun L (2005) Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig. Mol Genet Metab 84(1): 25–31.
3. Grubenmann CE, Frank CG, Kjaergaard S, Berger EG, Aebi M, Hennet T (2002) ALG12 mannosyltransferase defect in congenital disorder of glycosylation type Ig. Hum Mol Genet 11(19): 2331–2339.
4. Thiel C, Schwarz M, Hasilik M, et al (2002) Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. Biochem J 367(Pt 1): 195–201.
5. Zdebska E, Bader-Meunier B, Schischmanoff PO, et al (2003) Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig. Pediatr Res. 54(2): 224–229.
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