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Recessive mutations in SLC38a8 cause foveal hypoplasia and optic nerve misrouting without albinism
Citation
Poulter, JA and Al-Araimi, M and Conte, I and Van Genderen, MM and Sheridan, E and Carr, IM and Parry, DA and Shires, M and Carrella, S and Bradbury, J and Khan, K and Lakeman, P and Sergouniotis, PI and Webster, AR and Moore, AT and Pal, B and Mohamed, MD and Venkataramana, A and Ramprasad, V and Shetty, R and Saktivel, M and Kumaramanickavel, G and Tan, A and Mackey, DA and Hewitt, AW and Banfi, S and Ali, M and Inglehearn, CF and Toomes, C, Recessive mutations in SLC38a8 cause foveal hypoplasia and optic nerve misrouting without albinism, American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man, 93, (6) pp. 1143-1150. ISSN 0002-9297 (2013) [Refereed Article]
Copyright Statement
Copyright 2013 The American Society of Human Genetics
DOI: doi:10.1016/j.ajhg.2013.11.002
Abstract
Item Details
Item Type: | Refereed Article |
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Research Division: | Biomedical and Clinical Sciences |
Research Group: | Ophthalmology and optometry |
Research Field: | Ophthalmology |
Objective Division: | Health |
Objective Group: | Clinical health |
Objective Field: | Clinical health not elsewhere classified |
UTAS Author: | Mackey, DA (Professor David Mackey) |
UTAS Author: | Hewitt, AW (Professor Alex Hewitt) |
ID Code: | 95028 |
Year Published: | 2013 |
Web of Science® Times Cited: | 55 |
Deposited By: | Anatomy and Physiology |
Deposited On: | 2014-09-23 |
Last Modified: | 2017-11-06 |
Downloads: | 0 |
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