Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases

Mol Genet Metab. 2012 Feb;105(2):270-1. doi: 10.1016/j.ymgme.2011.10.019. Epub 2011 Nov 7.
No abstract available

Publication types

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

MeSH terms

  • Chromosome Aberrations
  • Congenital Disorders of Glycosylation / diagnosis
  • Congenital Disorders of Glycosylation / genetics*
  • Genes, Recessive / genetics
  • Homocystinuria / diagnosis
  • Homocystinuria / genetics*
  • Homozygote
  • Humans
  • Microsatellite Repeats / genetics*
  • Mutation
  • Pathology, Molecular / methods*
  • Phosphotransferases (Phosphomutases) / deficiency
  • Propionic Acidemia / diagnosis
  • Propionic Acidemia / genetics*
  • Uniparental Disomy / diagnosis
  • Uniparental Disomy / genetics*

Substances

  • Phosphotransferases (Phosphomutases)

Supplementary concepts

  • Congenital disorder of glycosylation type 1A