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[Identification of Arg77Cys and Arg174stop double heterozygous mutation in a Chinese family with inherited FXIII deficiency].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Mar 2009

Zheng Wei-Dong, Liu Yan-Hui, He Qi-Yong, Chen Zhi-Hong, Fan Xiao-Bin, Liu Hui-Fang

Abstract excerpt

OBJECTIVE: To identify the gene mutation type of an inherited coagulation factor XIII (FXIII) deficiency pedigree. METHODS: PCR and DNA sequencing were used to identify the mutations in the 15 exons and the flank sequence of FXIII gene in the proband. The identified mutations were validated by allele specific PCR, PCR restriction fragment length polymorphism technique or DNA sequencing in the family members and...

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PMID: 19642362

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

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