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Article

Novel mutations in congenital factor XII deficiency.

Frontiers in bioscience (Landmark edition) - 1 Jan 2016

Jin Peipei, Jiang Wenli, Yan Hui, Liu Lanbo, Gu Song, Wang Xuefeng, Shen Lisong, Mo Xi

Abstract excerpt

Several mutations in factor XII have been reported in patients with factor XII deficiency. Here, we described three mutations in the F12 gene (c. 6635G more than A (p. G259E), c. 6658G more than C (p. R267G) and c. 8489G more than A (p. E521K)) of five patients with congenital FXII deficiency. Among these, two were heterozygous mutations. All five patients had prolonged activated partial thromboplastin time, as...

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PMID: 26709783
DOI: 10.2741/4398

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

Source receipt: pubmed, retrieved 6 Sept 2026.

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