Neue Mutation bei einem Säugling mit Niemann-Pick-Krankheit Typ A/B

Klin Padiatr. 2016 Jan;228(1):47-8. doi: 10.1055/s-0035-1565239. Epub 2016 Jan 14.
[Article in German]
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Chromosome Aberrations*
  • DNA Mutational Analysis*
  • Female
  • Frameshift Mutation / genetics*
  • Genes, Recessive / genetics*
  • Genetic Carrier Screening
  • Humans
  • Infant
  • Niemann-Pick Disease, Type A / diagnosis*
  • Niemann-Pick Disease, Type A / genetics*
  • Sphingomyelin Phosphodiesterase / genetics*

Substances

  • SMPD1 protein, human
  • Sphingomyelin Phosphodiesterase