Citations for
1PRPF3, PRPF31, PRPF4, PRPF6, RP11, RP13, RP18, RP33, RP60, RP70, SNRNP200
Mutations in spliceosomal proteins and retina degeneration.
Růžičková Š, Staněk D.
RNA Biol NA Biol. 2016 Jun 14:1-9. [Epub ahead of print] 2016
2PRPF6, RP60
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.
Tanackovic G, Ransijn A, Ayuso C, Harper S, Berson EL, Rivolta C.
Am J Hum Genet 88(5):643-9. Epub 2011 May 5. 2011