Normal glycosylation screening does not rule out SRD5A3-CDG

Eur J Hum Genet. 2011 Oct;19(10):1019. doi: 10.1038/ejhg.2010.260. Epub 2011 Jul 13.
No abstract available

Publication types

  • Letter
  • Comment

MeSH terms

  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / genetics*
  • Frameshift Mutation / genetics*
  • Genes, Recessive / genetics*
  • Homozygote*
  • Humans
  • Intellectual Disability / genetics*
  • Membrane Proteins / genetics*
  • Sequence Analysis, DNA / methods*

Substances

  • Membrane Proteins
  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase