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Vascular Ehlers-Danlos syndrome patient with a novel COL3A1 gene deletion mutation without alteration in the triple sequence of (Gly-X-Y) repeat.

Shujiro HayashiWu LinYoichiro HamasakiKen Igawa
Published in: The Journal of dermatology (2020)
Keyphrases
  • case report
  • genome wide
  • copy number
  • genome wide identification
  • amino acid
  • transcription factor