Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency

Clin Genet. 2011 Aug;80(2):199-201. doi: 10.1111/j.1399-0004.2011.01626.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adenine Phosphoribosyltransferase / deficiency
  • Adenine Phosphoribosyltransferase / genetics*
  • Base Sequence
  • Chromosomes, Human, Pair 16 / genetics*
  • Female
  • Humans
  • Infant
  • Metabolism, Inborn Errors
  • Molecular Sequence Data
  • Pedigree
  • Uniparental Disomy / diagnosis
  • Uniparental Disomy / genetics*
  • Urolithiasis / diagnosis
  • Urolithiasis / genetics*

Substances

  • Adenine Phosphoribosyltransferase

Supplementary concepts

  • Adenine phosphoribosyltransferase deficiency