Academic Journal
A novel de-novo RB1 mutation identified in a patient with bilateral retinoblastoma
| العنوان: | A novel de-novo RB1 mutation identified in a patient with bilateral retinoblastoma |
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| المؤلفون: | Fukushima, Hiroko, Suzuki, Ryoko, Hiraoka, Takahiro, Suzuki, Shigenobu, Noguchi, Emiko, Takada, Hidetoshi |
| المساهمون: | Japan Society for the Promotion of Science |
| المصدر: | Japanese Journal of Clinical Oncology ; volume 53, issue 9, page 863-865 ; ISSN 1465-3621 |
| بيانات النشر: | Oxford University Press (OUP) |
| سنة النشر: | 2023 |
| الوصف: | Retinoblastoma manifests as ocular malignancy due to mutations in the RB1 gene. A 17-month-old girl with bilateral retinoblastoma having no family history was admitted to our hospital. The right eye was enucleated but the other was preserved with systemic chemotherapy and topical treatment. The patient has been tumor-free for over 7 years since diagnosis. All exons of RB1 were sequenced and a novel 1-base pair deletion (NM_000321.2:c.2409del, p.Asn803Lysfs*7) was detected. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1093/jjco/hyad064 |
| الاتاحة: | https://doi.org/10.1093/jjco/hyad064 https://academic.oup.com/jjco/article-pdf/53/9/863/51308833/hyad064.pdf |
| Rights: | https://academic.oup.com/pages/standard-publication-reuse-rights |
| رقم الانضمام: | edsbas.D71436F3 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1093/jjco/hyad064 |
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