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[R954 mutations in KIF21A gene in Chinese patients with congenital fibrosis of extraocular muscles].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Dec 2012

Li Ning-dong, Zhao Jun, Wang Li-ming, Chen Xia, Ma Hui-zhi, Zhu Li-na, Guo Xin, Zhao Kan-xing

Abstract excerpt

OBJECTIVE: Screening KIF21A gene mutation in 9 families with congenital fibrosis of extraocular muscles and 7 sporadic cases. METHODS: Families were ascertained and patients underwent complete ophthalmological examinations. The probands of 9 families with CFEOM and 7 sporadic patients were recruited for this study after informed consent. Genomic DNA was isolated from 5 ml peripheral blood samples according to the...

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PMID: 23336411

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

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