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Article

[Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2011

Yan You-sheng, Hao Sheng-ju, Wang Gang, Peng Liang, Hu Xiao-ping, Jiao Hai-yan

Abstract excerpt

OBJECTIVE: To determine the mutation responsible for the congenital fibrosis of the extraocular muscles type I(CFEOM1) in a Chinese family. METHODS: Direct sequencing of exons 20 and 21 in the KIF21A gene was performed for the proband. The mutation c.2860C to T in exon 21 was examined by allele specific-PCR (AS-PCR) analysis in other family members. Haplotype analysis was performed using four STR markers...

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Identifiers

PMID: 21983718
DOI: 10.3760/cma.j.issn.1003-9406.2011.05.003

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