Citations for
1ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, CDG1A, CDG1B, CDG1C, CDG1D, CDG1E, CDG1F, CDG1G, CDG1H, CDG1I, CDG1J, CDG1K, CDG1L, CDG2A, CDG2B, CDG2E, CDG2G, CDG2H, COG1, COG7, COG8, DPAGT1, DPM1, MGAT2, MOGS, MPDU1, MPI, PMM2
Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.
Leroy JG.
Pediatr Res 60(6):643-56. Epub 2006 Oct 25. 2006
2CDG2A, MGAT2
Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development.
Tan J, et al.
Am J Hum Genet 59 : 810-817. 1996
3MGAT2
The human UDP-N-acetylglucosamine : alpha-6-D-mannoside-beta-1,2-N-acetylglucosaminyltransferase II gene (MGAT2). Cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein.
Tan J, et al.
Eur J Biochem 231 : 317-328. 1995