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The complete type of pachydermoperiostosis: a novel nonsense mutation p.E141* of the SLCO2A1 gene.

AuthorsH Niizeki, A Shiohama, T Sasaki, A Seki, K Kabashima, A Otsuka, K Kosaki, A Ogo, T Yamada, M Miyasaka, K Matsuoka, A Hirakiyama, T Okuyama, M Matsuda, K Nakabayashi, K Tanese, A Ishiko, M Amagai, J Kudoh
JournalJournal of dermatological science (J Dermatol Sci) Vol. 75 Issue 3 Pg. 193-5 (Sep 2014) ISSN: 1873-569X [Electronic] Netherlands
PMID24929850 (Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • Codon, Nonsense
  • Codon, Terminator
  • Organic Anion Transporters
  • SLCO2A1 protein, human
  • Hydroxyprostaglandin Dehydrogenases
  • 15-hydroxyprostaglandin dehydrogenase
  • Dinoprostone
Topics
  • Alleles
  • Codon, Nonsense
  • Codon, Terminator
  • Dinoprostone (genetics)
  • Exons
  • Heterozygote
  • Humans
  • Hydroxyprostaglandin Dehydrogenases (genetics)
  • Introns
  • Male
  • Organic Anion Transporters (genetics)
  • Osteoarthropathy, Primary Hypertrophic (genetics)
  • Young Adult

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