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Article

Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa.

American journal of ophthalmology - 1 Sept 2005

Sato Hajime, Wada Yuko, Itabashi Toshitaka, Nakamura Makoto, Kawamura Miyuki, Tamai Makoto

Abstract excerpt

PURPOSE: To describe the clinical and genetic characteristics of three Japanese families with autosomal dominant retinitis pigmentosa (ADRP) associated with mutations in the PRPF31 gene. DESIGN: Case reports and results of DNA analysis. METHODS: Mutational screening of the PRPF31 gene was performed on 96 unrelated patients with ADRP by direct sequencing. The clinical features were characterized by complete...

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Identifiers

PMID: 16139010
DOI: 10.1016/j.ajo.2005.02.050

Genes

PRPF31

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa.PMID 16139010Read ↗

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