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Article

The RB1 gene mutation in a child with ectopic intracranial retinoblastoma.

British journal of cancer - 1 Jan 1997

Onadim Z, Woolford A J, Kingston J E, Hungerford J L

Abstract excerpt

The RB1 gene mutation was investigated in a child with ectopic intracranial retinoblastoma using DNA obtained from both the pineal and retinal tumours of the patient. A nonsense mutation in exon 17 (codon 556) of the RB1 gene was found to be present homozygously in both the retinal and the pineal...

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Identifiers

PMID: 9400934
DOI: 10.1038/bjc.1997.570
PMCID: PMC2228178

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9400934-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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The RB1 gene mutation in a child with ectopic intracranial retinoblastoma.PMID 9400934Read ↗

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Identification of three new mutations in the RB1 gene in patients with sporadic retinoblastoma in Colombia.Semantic proximity Read ↗

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.Semantic proximity Read ↗

Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.Semantic proximity Read ↗

Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients.Semantic proximity Read ↗

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A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.Semantic proximity Read ↗

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