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A novel LMX1B nonsense mutation in a family with nail-patella syndrome.

AuthorsTomoko Oshimo, Kazuyoshi Fukai, Nobuhiko Higashi, Toshio Kitano, Yuuki Imai, Haruo Shintaku, Masamitsu Ishii
JournalJournal of dermatological science (J Dermatol Sci) Vol. 52 Issue 1 Pg. 57-60 (Oct 2008) ISSN: 0923-1811 [Print] Netherlands
PMID18562181 (Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • Homeodomain Proteins
  • LIM homeobox transcription factor 1 beta
  • LIM-Homeodomain Proteins
  • Transcription Factors
Topics
  • Child, Preschool
  • Family
  • Female
  • Homeodomain Proteins (genetics, metabolism)
  • Humans
  • LIM-Homeodomain Proteins
  • Mutation
  • Nail-Patella Syndrome (genetics, pathology)
  • Nails (pathology)
  • Transcription Factors (genetics, metabolism)

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