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Article

A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene.

American journal of human genetics - 1 Jul 2002

Klutz Martina, Brockmann Dieter, Lohmann Dietmar R

Abstract excerpt

We have identified a splice-site mutation (IVS6+1G-->T) in the RB1 gene, in two unrelated families with incomplete-penetrance retinoblastoma. Analysis of RNA from white blood cells showed that this mutation causes skipping of exon 6. Although this deletion results in a frameshift, most carriers of the mutation did not develop retinoblastoma. Interestingly, the relative abundance of the resultant nonsense...

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Identifiers

PMID: 12016586
DOI: 10.1086/341284
PMCID: PMC384976

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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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