Mild case of D-bifunctional protein deficiency associated with novel gene mutations

Pediatr Int. 2012 Apr;54(2):303-4. doi: 10.1111/j.1442-200X.2012.03562.x.
No abstract available

Publication types

  • Letter

MeSH terms

  • 17-Hydroxysteroid Dehydrogenases / deficiency*
  • 17-Hydroxysteroid Dehydrogenases / genetics*
  • Codon, Nonsense / genetics
  • Fluorescent Antibody Technique
  • Gene Expression
  • Humans
  • Hydro-Lyases / deficiency*
  • Hydro-Lyases / genetics*
  • Male
  • Mutation, Missense / genetics
  • Peroxisomal Disorders / genetics*
  • Peroxisomal Multifunctional Protein-2

Substances

  • Codon, Nonsense
  • 17-Hydroxysteroid Dehydrogenases
  • Hydro-Lyases
  • Peroxisomal Multifunctional Protein-2
  • HSD17B4 protein, human