Associated Papers
Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.
Beryozkin A et al.
Scientific Reports, 2020
32938956 (PubMed )
Supplement: 41598_2020_72028_MOESM1_ESM.pdf
Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
Zhou Y et al.
Journal of Human Genetics, 2015
Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration.
Karlstetter M et al.
Human Molecular Genetics, 2014
Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.
Zobor D et al.
Molecular Vision, 2014
FAM161A, a novel centrosomal-ciliary protein implicated in autosomal recessive retinitis pigmentosa.
Zach F et al.
Advances in Experimental Medicine and Biology, 2014
Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.
Bandah-Rozenfeld D et al.
American Journal of Human Genetics, 2010
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