An overview of <i>RB1</i> transcript alterations detected during retinoblastoma genetic screening-Reference-Cited by-同舟云学术

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An overview of RB1 transcript alterations detected during retinoblastoma genetic screening

Published:2023-11-06 Issue: Volume: Page:1-11
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Price Elizabeth A.¹^ORCID,Sagoo Mandeep S.²³^ORCID,Reddy M. Ashwin²⁴,Onadim Zerrin¹⁴^ORCID

Affiliation:

1. Retinoblastoma Genetic Screening Unit, Barts Health NHS Trust, London, UK

2. Retinoblastoma Service, Royal London Hospital, Barts Health NHS Trust, London, UK

3. NIHR Biomedical Research Centre for Ophthalmology, Moorfields Eye Hospital, Institute of Ophthalmology, University College London, London, UK

4. Faculty of Medicine, Queen Mary University of London, London, UK

Funder

no funding associated

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2270570

Reference39 articles.

1. Incidence of Retinoblastoma Has Increased: Results from 40 European Countries

2. Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.

3. A Parent-of-Origin Effect in Two Families with Retinoblastoma Is Associated with a Distinct Splice Mutation in the RB1 Gene

4. Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma

5. The Human Retinoblastoma Gene Is Imprinted

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