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Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa

Langmann, Thomas ; Di Gioia, S. A. ; Rau, I. ; Stöhr, Heidi ; Maksimovic, N. S. ; Corbo, J. C. ; Renner, Agnes B. ; Zrenner, Eberhart ; Kumaramanickavel, G. ; Karlstetter, Marcus ; Arsenijevic, Y. ; Weber, Bernhard H. F.



Abstract

Retinitis pigmentosa (RP) is a degenerative disease of the retina leading to progressive loss of vision and, in many instances, to legal blindness at the end stage. The RP28 locus was assigned in 1999 to the short arm of chromosome 2 by homozygosity mapping in a large Indian family segregating autosomal-recessive RP (arRP). Following a combined approach of chromatin immunoprecipitation and ...

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