PMC Links for Protein (Select 38026892) - PMC

Select item 5089251.

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.

P Burda, L Borsig, J de Rijk-van Andel, R Wevers, J Jaeken, H Carchon, E G Berger, M Aebi

J Clin Invest. 1998 Aug 15; 102(4): 647–652. doi: 10.1172/JCI2266

PMCID:: PMC508925

Summary PDF–209K

Select item 237592.

Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl-P-Glc:Man₉GlcNAc₂-PP-dolichyl glucosyltransferase

Christian Körner, Roland Knauer, Ulrike Holzbach, Folker Hanefeld, Ludwig Lehle, Kurt von Figura

Proc Natl Acad Sci U S A. 1998 Oct 27; 95(22): 13200–13205. doi: 10.1073/pnas.95.22.13200

PMCID:: PMC23759

Abstract Article PDF–260K

Select item 220303.

A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic

Timo Imbach, Patricie Burda, Peter Kuhnert, Ron A. Wevers, Markus Aebi, Eric G. Berger, Thierry Hennet

Proc Natl Acad Sci U S A. 1999 Jun 8; 96(12): 6982–6987. doi: 10.1073/pnas.96.12.6982

PMCID:: PMC22030

Abstract Article PDF–265K

Select item 66477184.

Employment of single‐strand conformation polymorphism analysis in screening for α‐1,3 glucosyltransferase gene mutation A333V in Croatian population

Sandra Supraha Goreta, Sanja Dabelic, Jerka Dumic

J Clin Lab Anal. 2011; 25(2): 65–70. Published online 2011 Mar 15. doi: 10.1002/jcla.20425

PMCID:: PMC6647718

Abstract Article PDF–228K

Select item 41060905.

Comparative Analysis of Protein Glycosylation Pathways in Humans and the Fungal Pathogen Candida albicans

Iván Martínez-Duncker, Diana F. Díaz-Jímenez, Héctor M. Mora-Montes

Int J Microbiol. 2014; 2014: 267497. Published online 2014 Jul 3. doi: 10.1155/2014/267497

PMCID:: PMC4106090

Abstract Article PDF–854K

Select item 40623426.

Insights into complexity of congenital disorders of glycosylation

Sandra Supraha Goreta, Sanja Dabelic, Jerka Dumic

Biochem Med (Zagreb) 2012 Jun; 22(2): 156–170. Published online 2012 Jun 15. doi: 10.11613/bm.2012.019

PMCID:: PMC4062342

Abstract Article PDF–258K

Select item 32657707.

Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene

Sandra Supraha Goreta, Sanja Dabelic, Dinko Pavlinic, Gordan Lauc, Jerka Dumic

Genet Test Mol Biomarkers. 2012 Jan; 16(1): 50–53. doi: 10.1089/gtmb.2011.0093

PMCID:: PMC3265770

Abstract Article PDF–209K

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