KEGG   VARIANT: 54344v1
Entry
54344v1                      Variant                               
Name
DPM3 deficiency
Type
Loss of function
Gene
DPM3  dolichyl-phosphate mannosyltransferase subunit 3, regulatory [KO:K09659]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605951
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
  Authors
Lefeber DJ, Schonberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grunewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA
  Title
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
  Journal
Am J Hum Genet 85:76-86 (2009)
DOI:10.1016/j.ajhg.2009.06.006
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