Mutations in the Pre-mRNA Splicing Gene, PRPF31, in Japanese Families With Autosomal Dominant Retinitis Pigmentosa
- 30 September 2005
- journal article
- case report
- Published by Elsevier BV in American Journal of Ophthalmology
- Vol. 140 (3), 537-540
- https://doi.org/10.1016/j.ajo.2005.02.050
Abstract
No abstract availableKeywords
Funding Information
- Ministry of Education, Culture, Sports, Science and Technology (A-14704044, B-16791040)
This publication has 6 references indexed in Scilit:
- Novel 2336-2337delCT mutation in RP1 gene in a japanese family with autosomal dominant retinitis pigmentosaAmerican Journal of Ophthalmology, 2004
- Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 geneAlbrecht von Graefes Archiv für Ophthalmologie, 2004
- Expression ofPRPF31mRNA in Patients with Autosomal Dominant Retinitis Pigmentosa: A Molecular Clue for Incomplete Penetrance?Published by Association for Research in Vision and Ophthalmology (ARVO) ,2003
- Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family.American Journal of Medical Genetics, 2003
- 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 splicingThe EMBO Journal, 2002
- A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 (RP11)Molecular Cell, 2001