Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

Novel PRPF31 and PRPH2 Mutations and Co-occurrence of PRPF31 and RHO Mutations in Chinese Patients With Retinitis Pigmentosa

(2009) King Poo Lim   ARCHIVES OF OPHTHALMOLOGY

A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs

(2009) M. Huranova et al.   HUMAN MOLECULAR GENETICS

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance

(2009) Thomas Rio Frio et al.   HUMAN MUTATION

Identification and functional characterization of a novel splicing mutation in RP gene PRPF31

(2008) Jing Yu Liu et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Breakpoint characterization of a novel ∼59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

(2008) Linda Köhn et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

(2008) Thomas Rio Frio et al.   JOURNAL OF CLINICAL INVESTIGATION