Mutations in the Pre-mRNA Splicing Gene, PRPF31, in Japanese Families With Autosomal Dominant Retinitis Pigmentosa

A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 (RP11)

Eranga N. Vithana, Leen Abu‐Safieh, Maxine Allen et al. · Molecular Cell · 2001 · 329 citations · Full text

Chromatin, Transcriptional Regulation, Genetics +10

Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6middle dotU5 tri-snRNP formation and pre-mRNA splicing

Olga V. Makarova · The EMBO Journal · 2002 · 173 citations · Full text

Pre-mrna Splicing, Genetics, Gene Regulation +7

Expression of<i>PRPF31</i>mRNA in Patients with Autosomal Dominant Retinitis Pigmentosa: A Molecular Clue for Incomplete Penetrance?

Eranga N. Vithana, Leen Abu‐Safieh, Lucia Pelosini et al. · Investigative Ophthalmology & Visual Science · 2003 · 128 citations

Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa.

Yuko Wada, Toshiaki Abe, Tatsuya Takeshita et al. · PubMed · 2001 · 90 citations

Novel deletion in the pre‐mRNA splicing gene <i>PRPF31</i> causes autosomal dominant retinitis pigmentosa in a large Chinese family

Lejin Wang, M.R. Ribaudo, Kanxing Zhao et al. · American Journal of Medical Genetics Part A · 2003 · 33 citations · Full text