HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

Bonthron, DT (2015) HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. Journal of Medical Genetics, 52 (12). pp. 797-803. ISSN 0022-2593

Abstract

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Authors/Creators:
  • Bonthron, DT
Copyright, Publisher and Additional Information: This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0
Keywords: autozygosity, autosomal recessive, HACE1, intellectual disability, ubiquitin
Dates:
  • Published: 1 December 2015
  • Accepted: 23 July 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 Translational Medicine (Leeds)
Funding Information:
FunderGrant number
Jules Thorn Charitable TrustNOT GIVEN
Great Ormond St. Hosp. Childrens CharityV1217
Depositing User: Symplectic Publications
Date Deposited: 30 Jul 2015 09:22
Last Modified: 26 Feb 2019 09:42
Published Version: http://dx.doi.org/10.1136/jmedgenet-2015-103344
Status: Published
Publisher: BMJ Publishing Group
Identification Number: https://doi.org/10.1136/jmedgenet-2015-103344

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