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Article

Two factor XI mutations in a Chinese family with factor XI deficiency.

American journal of hematology - 1 Oct 2003

Au W Y, Cheung J W, Lam C C K, Kwong Y L

Abstract excerpt

We describe a Chinese family with factor XI deficiency, the first reported to date. The proband had factor XI activity of 1% and was heterozygous for two nonsense mutations, an exon-8 C713-->T mutation resulting in Gln263-->Term, and an exon-10 C979-->A mutation resulting in Tyr351-->Term. Two da...

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Identifiers

PMID: 14508802
DOI: 10.1002/ajh.10396

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14508802-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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