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Article

Novel mutations in the RB1 gene from Chinese families with a history of retinoblastoma.

Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine - 1 Apr 2015

Zhang Leilei, Jia Renbing, Zhao Junyang, Fan Jiayan, Zhou YiXiong, Han Bing, Song Xin, Wu Li, Zhang He, Song Huaidong, Ge Shengfang, Fan Xianqun

Abstract excerpt

Retinoblastoma is an aggressive eye cancer that develops during infancy and is divided into two clinical types, sporadic and heritable. RB1 has been identified as the only pathological gene responsible for heritable retinoblastoma. Here, we identified 11 RB1 germline mutations in the Han pedigrees of 17 bilateral retinoblastoma patients from China. Four mutations were nonsense mutations, five were splice site...

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Identifiers

PMID: 25424699
DOI: 10.1007/s13277-014-2851-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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