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Article

The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies.

Orphanet journal of rare diseases - 4 Jun 2024

Zhang Ke, Qin Langyi, Xu Fei, Ye Longying, Wen Mengzhen, Pan Jingye, Yang Lihong, Wang Mingshan, Xie Haixiao

Abstract excerpt

BACKGROUND: Factor XI (FXI) deficiency is an autosomal hemorrhagic disorder characterized by reduced plasma FXI levels. Multiple ancestral variants in the F11 gene have been identified in Ashkenazi Jews and other selected European populations. However, there are few reports of predominant variants in Chinese and/or East Asian populations. The aim of this study is to characterize the genotypes and phenotypes of...

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Identifiers

PMID: 38835089
DOI: 10.1186/s13023-024-03235-5
PMCID: PMC11151491

Genes

F11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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