Clinical utility gene card for: Phosphomannose isomerase deficiency

Eur J Hum Genet. 2014 Sep;22(9). doi: 10.1038/ejhg.2014.29. Epub 2014 Feb 26.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Congenital Disorders of Glycosylation / diagnosis
  • Congenital Disorders of Glycosylation / genetics*
  • Genetic Testing*
  • Humans
  • Mannose-6-Phosphate Isomerase / deficiency*
  • Mannose-6-Phosphate Isomerase / genetics
  • Mutation

Substances

  • Mannose-6-Phosphate Isomerase

Supplementary concepts

  • Congenital disorder of glycosylation type 1B