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Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.

AuthorsPhilip M Boone, Russel J Reiter, Daniel G Glaze, Dun-Xian Tan, James R Lupski, Lorraine Potocki
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 155A Issue 8 Pg. 2024-7 (Aug 2011) ISSN: 1552-4833 [Electronic] United States
PMID21739587 (Publication Type: Letter, Research Support, N.I.H., Extramural)
Chemical References
  • RAI1 protein, human
  • Transcription Factors
  • 6-sulfatoxymelatonin
  • Melatonin
Topics
  • Adult
  • Child
  • Circadian Rhythm
  • Female
  • Genetic Association Studies
  • Humans
  • Male
  • Melatonin (analogs & derivatives, metabolism, urine)
  • Point Mutation
  • Sleep Disorders, Circadian Rhythm (genetics)
  • Sleep Stages
  • Smith-Magenis Syndrome (metabolism, physiopathology)
  • Transcription Factors (genetics)

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