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Article

A novel mutation that leads to a congenital factor XI deficiency in a Japanese family.

American journal of hematology - 1 Apr 2000

Sato E, Kawamata N, Kato A, Oshimi K

Abstract excerpt

We have identified a novel mutation leading to a congenital deficiency of the coagulation factor XI (FXI) in a Japanese family. A propositus was a 42-year-old female patient without bleeding tendency. Coagulant activity and the antigen level of FXI in her plasma were below the detectable range. The nucleotide sequences of the FXI gene of this patient were determined by a direct sequence method established in this...

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Source

Identifiers

PMID: 10706758
DOI: 10.1002/(sici)1096-8652(200004)63:4<165::aid-ajh1>3.0.co;2-q

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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