Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type

Hum Genet. 2009 Apr;125(3):346.
No abstract available

MeSH terms

  • Alternative Splicing
  • Codon / genetics
  • Codon, Nonsense*
  • Ehlers-Danlos Syndrome / classification
  • Ehlers-Danlos Syndrome / enzymology*
  • Ehlers-Danlos Syndrome / genetics*
  • Exons
  • Homozygote
  • Humans
  • Introns
  • Molecular Sequence Data
  • Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / genetics*
  • RNA / genetics
  • RNA / metabolism
  • Reading Frames
  • Sequence Deletion*
  • Transcription, Genetic

Substances

  • Codon
  • Codon, Nonsense
  • RNA
  • Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase
  • lysyl hydroxylase 1, human

Associated data

  • GENBANK/HG080009
  • GENBANK/HM080082