Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa

Wang NH, Chen SJ, Yang CF, Chen HW, Chuang HP, Lu YH, Chen CH, Wu JY, Niu DM, Chen YT. Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2016 Jul 1;57(8):3601-9.