Heimler Syndrome is Caused by Hypomorphic Mutations in the Peroxisome Biogenesis Genes PEX1 and PEX6

Ratbi, I, Falkenberg, KD, Sommen, M et al. (28 more authors) (2015) Heimler Syndrome is Caused by Hypomorphic Mutations in the Peroxisome Biogenesis Genes PEX1 and PEX6. American Journal of Human Genetics, 97. 1 - 11. ISSN 0002-9297

Abstract

Metadata

Authors/Creators:
  • Ratbi, I
  • Falkenberg, KD
  • Sommen, M
  • Al-Sheqaih, N
  • Guaoua, S
  • Vandeweyer, G
  • Urquhart, JE
  • Chandler, KE
  • Williams, SJ
  • Roberts, NA
  • El Alloussi, M
  • Black, GC
  • Ferdinandusse, S
  • Ramdi, H
  • Heimler, A
  • Fryer, A
  • Lynch, S
  • Cooper, N
  • Ong, KR
  • Inglehearn, CF
  • Smith, CEL
  • Mighell, AJ
  • Elcock, C
  • Poulter, JA
  • Tischkowitz, M
  • Davies, SJ
  • Sefiani, A
  • Mironov, AA
  • Newman, GG
  • Waterham, HR
  • Van Camp, G
Copyright, Publisher and Additional Information: © 2015, The Authors.This is an open access article under the CC BY license(http://creativecommons.org/licenses/by/4.0/).
Dates:
  • Published: 1 October 2015
  • Accepted: 21 August 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)
Funding Information:
FunderGrant number
Wellcome Trust093113/A/10/Z
Depositing User: Symplectic Publications
Date Deposited: 18 Sep 2015 09:20
Last Modified: 18 Sep 2015 09:20
Published Version: http://dx.doi.org/10.1016/j.ajhg.2015.08.011
Status: Published
Publisher: Elsevier (Cell Press)
Identification Number: https://doi.org/10.1016/j.ajhg.2015.08.011

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