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Article

RB1 gene mutations and genetic spectrum in retinoblastoma cases.

Medicine - 8 Sept 2023

Akdeniz Odemis Demet, Kebudi Rejin, Bayramova Jamila, Kilic Erciyas Seda, Kuru Turkcan Gozde, Tuncer Seref Bugra, Sukruoglu Erdogan Ozge, Celik Betul, Kurt Gultaslar Busra, Buyukkapu Bay Sema, Tuncer Samuray, Yazici Hulya

Abstract excerpt

The aim of the study was to investigate the frequency and types of mutations on the retinoblastoma gene (RB1 gene) in Turkish population. RB1 gene mutation analysis was performed in a total of 219 individuals (122 probands with retinoblastoma, 14 family members with retinoblastoma and 83 clinically healthy family members). All 27 exons and close intronic regions of the RB1 gene were sequenced for small deletions...

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Identifiers

PMID: 37682130
DOI: 10.1097/MD.0000000000035068
PMCID: PMC10489529

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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