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[Characteristics of RB1 gene mutations in Chinese patients with retinoblastoma].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2013

He Ming-yan, An Yu, Li Gang, Qian Jiang, Gao Yi-jin

Abstract excerpt

OBJECTIVE: To study the characteristics of RB1 gene mutations in Chinese patients with retinoblastoma. METHODS: Peripheral blood samples of 35 patients with retinoblastoma were collected and genomic DNA was extracted. Multiplex PCR sequencing was carried out to identify RB1 gene mutations. Parents of 6 probands with RB1 mutations were also enrolled to identify the origins of mutations. RESULTS: Fourteen patients...

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Identifiers

PMID: 24078560
DOI: 10.3760/cma.j.issn.1003-9406.2013.05.001

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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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