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A Parent-of-Origin Effect in Two Families with Retinoblastoma Is Associated with a Distinct Splice Mutation in the RB1 Gene
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...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The American Society of Human Genetics
2002
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC384976/ https://ncbi.nlm.nih.gov/pubmed/12016586 |
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