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High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation.

AuthorsAyano Umekoji, Kazuyoshi Fukai, Takeshi Kasama, Toshiaki Yokoi, Mika Saito, Akitoshi Tsuruhara, Masamitsu Ishii
JournalJournal of dermatological science (J Dermatol Sci) Vol. 51 Issue 1 Pg. 62-5 (Jul 2008) ISSN: 0923-1811 [Print] Netherlands
PMID18387283 (Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • Cholestadienols
  • cholesta-5,8-dien-3 beta-ol
  • Steroid Isomerases
  • EBP protein, human
Topics
  • Amino Acid Substitution
  • Cholestadienols (blood, metabolism)
  • Chondrodysplasia Punctata (blood, genetics, metabolism)
  • Female
  • Humans
  • Infant, Newborn
  • Models, Molecular
  • Mutation, Missense
  • Steroid Isomerases (chemistry, genetics)

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