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Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects
Authors:Dong‐Hui Chen  Alipi Naydenov  Jacqueline L. Blankman  Heather C. Mefford  Marie Davis  Youngmee Sul  A. Samuel Barloon  Emily Bonkowski  John Wolff  Mark Matsushita  Corrine Smith  Benjamin F. Cravatt  Ken Mackie  Wendy H. Raskind  Nephi Stella  Thomas D. Bird
Affiliation:1. Department of Neurology, University of Washington, , Seattle, Washington, 98195;2. Department of Pharmacology, University of Washington, , Seattle, Washington, 98195;3. The Skaggs Institute for Chemical Biology and Department of Chemical Physiology, The Scripps Research Institute, , La Jolla, California, 92037;4. Department of Pediatrics, University of Washington, , Seattle, Washington, 98195;5. Department of Medicine, University of Washington, , Seattle, Washington, 98195;6. Northwest Hospital and Medical Center, , Bellevue, Washington, 98004;7. Psychological and Brain Sciences, Indiana University, , Bloomington, Indiana, 47405;8. Psychiatry and Behavioral Sciences, University of Washington, , Seattle, Washington, 98195;9. The GRECC and MIRECC, Veterans Administration Puget Sound Veterans Health Care Center, , Seattle, Washington, 98133
Abstract:
Keywords:PHARC  ABHD12  GINS1  short stature  endocannabinoid  hydrolase activity
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