Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion

J Med Genet. 2004 Nov;41(11):877-80. doi: 10.1136/jmg.2004.022350.
No abstract available

Publication types

  • Letter
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Congenital Disorders of Glycosylation / diagnosis
  • Congenital Disorders of Glycosylation / genetics*
  • Female
  • Genetic Carrier Screening
  • Genetic Predisposition to Disease*
  • Genotype
  • Glycosylation
  • Humans
  • Mutation, Missense*
  • Phosphotransferases (Phosphomutases) / deficiency
  • Phosphotransferases (Phosphomutases) / genetics*
  • Pregnancy
  • Prenatal Diagnosis

Substances

  • Phosphotransferases (Phosphomutases)
  • phosphomannomutase