PMC Links for Protein (Select 122937281) - PMC

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Items: 4

Select item 39925741.

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

Yonatan Perez, Libe Gradstein, Hagit Flusser, Barak Markus, Idan Cohen, Yshaia Langer, Mira Marcus, Tova Lifshitz, Rotem Kadir, Ohad S Birk

Eur J Hum Genet. 2014 May; 22(5): 703–706. Published online 2013 Sep 18. doi: 10.1038/ejhg.2013.212

PMCID:: PMC3992574

Abstract Article PDF–1.0M

Select item 38820962.

Gene-environment interaction effects on lung function- a genome-wide association study within the Framingham heart study

Shu-Yi Liao, Xihong Lin, David C Christiani

Environ Health. 2013; 12: 101. Published online 2013 Dec 1. doi: 10.1186/1476-069X-12-101

PMCID:: PMC3882096

Abstract Article PDF–596K

Select item 38534093.

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

James A. Poulter, Musallam Al-Araimi, Ivan Conte, Maria M. van Genderen, Eamonn Sheridan, Ian M. Carr, David A. Parry, Mike Shires, Sabrina Carrella, John Bradbury, Kamron Khan, Phillis Lakeman, Panagiotis I. Sergouniotis, Andrew R. Webster, Anthony T. Moore, Bishwanath Pal, Moin D. Mohamed, Anandula Venkataramana, Vedam Ramprasad, Rohit Shetty, Murugan Saktivel, Govindasamy Kumaramanickavel, Alex Tan, David A. Mackey, Alex W. Hewitt, Sandro Banfi, Manir Ali, Chris F. Inglehearn, Carmel Toomes

Am J Hum Genet. 2013 Dec 5; 93(6): 1143–1150. doi: 10.1016/j.ajhg.2013.11.002