Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

Logan, CV, Cossins, J, Cruz, PMR et al. (16 more authors) (2015) Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain. American Journal of Human Genetics, 97 (6). pp. 878-885. ISSN 0002-9297

Abstract

Metadata

Authors/Creators:
  • Logan, CV
  • Cossins, J
  • Cruz, PMR
  • Parry, DA
  • Maxwell, S
  • Martinez-Martinez, P
  • Riepsaame, J
  • Abdelhamed, ZA
  • Lake, AVR
  • Moran, M
  • Robb, S
  • Chow, G
  • Sewry, C
  • Hopkins, PM
  • Sheridan, E
  • Jayawant, S
  • Palace, J
  • Johnson, CA
  • Beeson, D
Copyright, Publisher and Additional Information: © 2015 The Author. This is an open access article under the terms of the Creative Commons Attribution License (CC-BY 4.0)
Dates:
  • Published: December 2015
  • Accepted: 28 October 2015
  • Published (online): 25 November 2015
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Inst of Biomed & Clin Sciences (LIBACS) (Leeds) > Genetics (LIBACS) (Leeds)
The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Opthalmology and Neurosciences (Leeds)
The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Inst of Biomed & Clin Sciences (LIBACS) (Leeds) > Trans Anaesthetics & Surgical Sciences (Leeds)
Depositing User: Symplectic Publications
Date Deposited: 27 May 2016 14:53
Last Modified: 27 May 2016 14:53
Published Version: https://dx.doi.org/10.1016/j.ajhg.2015.10.017
Status: Published
Publisher: Elsevier
Identification Number: https://doi.org/10.1016/j.ajhg.2015.10.017
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