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Article

Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.

Human genetics - 1 Nov 2007

Zhang Qingjiong, Zulfiqar Fareeha, Xiao Xueshan, Riazuddin S Amer, Ahmad Zahoor, Caruso Raphael, MacDonald Ian, Sieving Paul, Riazuddin Sheikh, Hejtmancik J Fielding

Abstract excerpt

Mutation in the PROM1 gene previously has been identified in one family with retinal degeneration for which neither ERG recordings nor detailed information about visual impairment is available. A large family with multiple individuals affected by retinal degeneration was ascertained in the Punjab province of Pakistan. The visual acuity of all affected patients in the family was severely compromised beginning in...

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Source

Identifiers

PMID: 17605048
DOI: 10.1007/s00439-007-0395-2

Genes

PROM1
ERG
RPE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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