Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

Nguyen, TTM, Murakami, Y, Sheridan, E orcid.org/0000-0002-7237-6280 et al. (29 more authors) (2017) Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. American Journal of Human Genetics, 101 (5). pp. 856-865. ISSN 0002-9297

Abstract

Metadata

Authors/Creators:
  • Nguyen, TTM
  • Murakami, Y
  • Sheridan, E https://orcid.org/0000-0002-7237-6280
  • Ehresmann, S
  • Rousseau, J
  • St-Denis, A
  • Chai, G
  • Ajeawung, NF
  • Fairbrother, L
  • Reimschisel, T
  • Bateman, A
  • Berry-Kravis, E
  • Xia, F
  • Tardif, J
  • Parry, DA
  • Logan, CV
  • Diggle, C https://orcid.org/0000-0001-6861-359X
  • Bennett, CP
  • Hattingh, L
  • Rosenfeld, JA
  • Perry, MS
  • Parker, MJ
  • Le Deist, F
  • Zaki, MS
  • Ignatius, E
  • Isohanni, P
  • Lonnqvist, T
  • Carroll, CJ
  • Johnson, CA
  • Gleeson, JG
  • Kinoshita, T
  • Campeau, PM
Copyright, Publisher and Additional Information: © 2017 American Society of Human Genetics. This is an author produced version of a paper published in American Journal of Human Genetics. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: GPAA1; glycosylphosphatidylinositol; GPI; alkaline phosphatase; osteopenia; epilepsy; seizures
Dates:
  • Published: 2 November 2017
  • Accepted: 21 September 2017
  • Published (online): 2 November 2017
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)
Depositing User: Symplectic Publications
Date Deposited: 24 Oct 2017 15:29
Last Modified: 02 May 2018 00:39
Status: Published
Publisher: Elsevier (Cell Press)
Identification Number: https://doi.org/10.1016/j.ajhg.2017.09.020

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