Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

Poulter, JA, Al-Araimi, M, Conte, I et al. (26 more authors) (2013) Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism. American Journal of Human Genetics, 93 (6). 1143 - 1150. ISSN 0002-9297

Abstract

Metadata

Authors/Creators:
  • Poulter, JA
  • Al-Araimi, M
  • Conte, I
  • van Genderen, MM
  • Sheridan, E
  • Carr, IM
  • Parry, DA
  • Shires, M
  • Carrella, S
  • Bradbury, J
  • Khan, K
  • Lakeman, P
  • Sergouniotis, PI
  • Webster, AR
  • Moore, AT
  • Pal, B
  • Mohamed, MD
  • Venkataramana, A
  • Ramprasad, V
  • Shetty, R
  • Saktivel, M
  • Kumaramanickavel, G
  • Tan, A
  • Mackey, DA
  • Hewitt, AW
  • Banfi, S
  • Ali, M
  • Inglehearn, CF
  • Toomes, C
Dates:
  • Published: 2013
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)
Depositing User: Symplectic Publications
Date Deposited: 12 Nov 2015 09:47
Last Modified: 16 Nov 2015 15:26
Published Version: http://dx.doi.org/10.1016/j.ajhg.2013.11.002
Status: Published
Publisher: Elsevier
Identification Number: https://doi.org/10.1016/j.ajhg.2013.11.002
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