Reference on EC 2.4.1.265 - dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichol alpha-1,3-glucosyltransferase and Organism(s) Homo sapiens

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Chantret, I.; Dancourt, J.; Dupre, T.; Delenda, C.; Bucher, S.; Vuillaumier-Barrot, S.; Ogier de Baulny, H.; Peletan, C.; Danos, O.; Seta, N.; Durand, G.; Oriol, R.; Codogno, P.; Moore, S.E.

A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation

J. Biol. Chem.

278

9962-9971

2003

Homo sapiens (Q9BVK2)

12480927

709391

Vesela, K.; Honzik, T.; Hansikova, H.; Haeuptle, M.A.; Semberova, J.; Stranak, Z.; Hennet, T.; Zeman, J.

A new case of ALG8 deficiency (CDG Ih)

J. Inherit. Metab. Dis.

259�264

2009

Homo sapiens

19688606

709484

Schollen, E.; Frank, C.G.; Keldermans, L.; Reyntjens, R.; Grubenmann, C.E.; Clayton, P.T.; Winchester, B.G.; Smeitink, J.; Wevers, R.A.; Aebi, M.; Hennet, T.; Matthijs, G.

Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

J. Med. Genet.

550-556

2004

Homo sapiens (Q9BVK2)

15235028

709971

St�lting, T.; Omran, H.; Erlekotte, A.; Denecke, J.; Reunert, J.; Marquardt, T.

Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih

Mol. Genet. Metab.

305-309

2009

Homo sapiens (Q9BVK2), Homo sapiens

19648040