Associated Papers
Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene.
Gray JM et al.
Ophthalmic Genetics, 2018
Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.
van Huet RA et al.
Acta Ophthalmologica, 2015
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.
Ozgül RK et al.
American Journal of Human Genetics, 2011
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