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Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss‐of‐function filaminopathies
Authors:Zandra A Jenkins  Alison Macharg  Cheng‐Yee Chang  Margriet van Kogelenberg  Tim Morgan  Sophia Frentz  Wenhua Wei  Jacek Pilch  Mark Hannibal  Nicola Foulds  George McGillivray  Richard J Leventer  Sixto García‐Miñaúr  Stuart Sugito  Scott Nightingale  David M Markie  Tracy Dudding  Raj P Kapur  Stephen P Robertson
Affiliation:1. Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand;2. Department of Child Neurology, Medical University of Silesia, Katowice, Poland;3. Department of Medical Genetics, Seattle Children's Hospital, Seattle, Washington;4. Wessex Regional Genetics Service, Southampton, UK;5. Victorian Clinical Genetics Service, Royal Children's Hospital, Melbourne, Australia;6. Department of Neurology, Royal Children's Hospital, Murdoch Childrens Research Institute and University of Melbourne, Department of Paediatrics, Melbourne, Australia;7. Department of Medical Genetics, Hospital Universitario La Paz, Madrid, Spain;8. Hunter Genetics, Newcastle, Australia;9. University of Newcastle, GrowUpWell Priority Research Centre, Newcastle, UK;10. Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand;11. Department of Laboratories, Seattle Children's Hospital, Seattle, Washington
Abstract:
Keywords:
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