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Article

Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.

BMC ophthalmology - 1 Jun 2020

Gao Feng-Juan, Tian Guo-Hong, Hu Fang-Yuan, Wang Dan-Dan, Li Jian-Kang, Chang Qing, Chen Fang, Xu Ge-Zhi, Liu Wei, Wu Ji-Hong

Abstract excerpt

BACKGROUND: To report the clinical and genetic findings from seven Chinese patients with choroideremia. METHODS: Five hundred seventy-eight patients with a clinically suspected diagnosis of retinitis pigmentosa (RP) underwent comprehensive ophthalmic examinations. Next-generation sequencing (NGS) was performed on samples from all patients. Detailed clinical characteristics of the patients with choroideremia...

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Identifiers

PMID: 32487042
DOI: 10.1186/s12886-020-01478-x
PMCID: PMC7268499

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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