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A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.
J Biol Chem. 2003 Mar 14;278(11):9962-71. doi: 10.1074/jbc.M211950200. Epub 2002 Dec 11.
J Biol Chem. 2003.
PMID: 12480927
Free article.
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).
Schollen E, Frank CG, Keldermans L, Reyntjens R, Grubenmann CE, Clayton PT, Winchester BG, Smeitink J, Wevers RA, Aebi M, Hennet T, Matthijs G.
Schollen E, et al.
J Med Genet. 2004 Jul;41(7):550-6. doi: 10.1136/jmg.2003.016923.
J Med Genet. 2004.
PMID: 15235028
Free PMC article.
No abstract available.
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