Novel human pathological mutations. Gene symbol: Zmpste24. Disease: Restrictive dermopathy

Hum Genet. 2010 Apr;127(4):480.
No abstract available

MeSH terms

  • Base Sequence
  • Codon, Nonsense
  • Contracture / genetics
  • Exons
  • Female
  • Heterozygote
  • Humans
  • India
  • Membrane Proteins / genetics*
  • Metalloendopeptidases / genetics*
  • Skin Abnormalities / genetics

Substances

  • Codon, Nonsense
  • Membrane Proteins
  • Metalloendopeptidases
  • ZMPSTE24 protein, human

Supplementary concepts

  • Tight skin contracture syndrome, lethal