Periodic Reporting for period 1 - SpliceCore (Functional dissection of core spliceosomal mutations causing Retinitis Pigmentosa.)

Over 95% of human genes undergo pre-mRNA splicing, and alternative splicing of mRNA precursors represents a prevalent mode of gene regulation. Errors in this process are often the origin of disorders. Mutations affecting directly splicing factors, including core spliceosomal...