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Article

Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu). Mutations in brief no. 208. Online.

Human mutation - 1 Jan 1999

Bessant D A, Khaliq S, Hameed A, Anwar K, Payne A M, Mehdi S Q, Bhattacharya S S

Abstract excerpt

Mutations in the rhodopsin gene are reported to be responsible for approximately 25% of all cases of autosomal dominant Retinitis pigmentosa (adRP). Affected individuals from a large family with an unusually severe form of adRP were screened for mutations in the rhodopsin gene. Direct sequencing of exon 5 revealed a TAA to GAA transversion at nucleotide 5276/codon 349, which was confirmed by Dde1 restriction...

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Source

Identifiers

PMID: 10189219
DOI: 10.1002/(SICI)1098-1004(1999)13:1<83::AID-HUMU12>3.0.CO;2-5

Genes

GAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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