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New disease loci
Original article
SEC31A mutation affects ER homeostasis, causing a neurological syndrome

Authors

  • Daniel Halperin The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Rotem Kadir The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Yonatan Perez The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Max Drabkin The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Yuval Yogev The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Ohad Wormser The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Erez M Berman The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Ekaterina Eremenko The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Zlotowski Center for Neuroscience, The National Institute of Biotechnology in the Negev; Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Barak Rotblat Department of Life Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Zamir Shorer Pediatric Neurology Unit, Division of Pediatrics, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Libe Gradstein Department of Ophthalmology, Clalit Health Services, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Ilan Shelef Department of Imaging, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Ruth Birk Department of Nutrition, Faculty of Health Sciences, Ariel University, Ariel, Israel PubMed articlesGoogle scholar articles
  • Uri Abdu Department of Life Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Hagit Flusser Zussman Child Development Center, Division of Pediatrics, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  • Ohad S Birk The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel Genetics Institute, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel PubMed articlesGoogle scholar articles
  1. Correspondence to Prof. Ohad S Birk, Genetics Institute, Soroka Medical Center, Beer Sheva 84101, Israel; obirk{at}bgu.ac.il
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Citation

Halperin D, Kadir R, Perez Y, et al
SEC31A mutation affects ER homeostasis, causing a neurological syndrome
Journal of Medical Genetics 2019;56:139-148.

Publication history

  • Received May 25, 2018
  • Revised October 22, 2018
  • Accepted October 30, 2018
  • First published November 21, 2018.
Online issue publication 
February 22, 2019

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© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.