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Article

A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease.

Molecular vision - 18 Apr 2006

Abu-Safieh Leen, Vithana Eranga N, Mantel Irmela, Holder Graham E, Pelosini Lucia, Bird Alan C, Bhattacharya Shomi S

Abstract excerpt

PURPOSE: To report a large deletion that encompasses more than 90% of PRPF31 gene and two other neighboring genes in their entirety in an adRP pedigree that appears to show only the typical clinical features of retinitis pigmentosa. METHODS: To identify PRPF31 mutation in a dominant RP family (AD...

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Source

Identifiers

PMID: 16636657

Genes

PRPF31
NDUFA3
OSCAR
TFPT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16636657-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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