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

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 tu...

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Autores principales: Onadim, Z., Woolford, A. J., Kingston, J. E., Hungerford, J. L.
Formato: Texto
Lenguaje:English
Publicado: Nature Publishing Group 1997
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2228178/
https://www.ncbi.nlm.nih.gov/pubmed/9400934
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author Onadim, Z.
Woolford, A. J.
Kingston, J. E.
Hungerford, J. L.
author_facet Onadim, Z.
Woolford, A. J.
Kingston, J. E.
Hungerford, J. L.
author_sort Onadim, Z.
collection PubMed
description 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 tumours. The same mutation was present heterozygously in the DNA from the constitutional cells of the patient, proving it to be of germline origin. The initial mutation was shown to have occurred in the paternally derived RB1 allele. The mutation is in an area of the gene that encodes the protein-binding region known as the 'pocket' region and has been detected in other cases of retinoblastoma. IMAGES:
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spelling pubmed-22281782009-09-10 The RB1 gene mutation in a child with ectopic intracranial retinoblastoma. Onadim, Z. Woolford, A. J. Kingston, J. E. Hungerford, J. L. Br J Cancer Research Article 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 tumours. The same mutation was present heterozygously in the DNA from the constitutional cells of the patient, proving it to be of germline origin. The initial mutation was shown to have occurred in the paternally derived RB1 allele. The mutation is in an area of the gene that encodes the protein-binding region known as the 'pocket' region and has been detected in other cases of retinoblastoma. IMAGES: Nature Publishing Group 1997 /pmc/articles/PMC2228178/ /pubmed/9400934 Text en https://creativecommons.org/licenses/by/4.0/This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit https://creativecommons.org/licenses/by/4.0/.
spellingShingle Research Article
Onadim, Z.
Woolford, A. J.
Kingston, J. E.
Hungerford, J. L.
The RB1 gene mutation in a child with ectopic intracranial retinoblastoma.
title The RB1 gene mutation in a child with ectopic intracranial retinoblastoma.
title_full The RB1 gene mutation in a child with ectopic intracranial retinoblastoma.
title_fullStr The RB1 gene mutation in a child with ectopic intracranial retinoblastoma.
title_full_unstemmed The RB1 gene mutation in a child with ectopic intracranial retinoblastoma.
title_short The RB1 gene mutation in a child with ectopic intracranial retinoblastoma.
title_sort rb1 gene mutation in a child with ectopic intracranial retinoblastoma.
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2228178/
https://www.ncbi.nlm.nih.gov/pubmed/9400934
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