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Article

Factor XI deficiency with a novel homozygous mutation Trp599Arg near the C-terminal region.

Haematologica - 1 Jul 2005

Takamiya Osamu, Machida Shinichiro, Yamamoto Manabu

Abstract excerpt

We identified a novel mutation in an asymptomatic 72-year old Japanese woman with severe factor XI (FXI) deficiency. Sequence analysis showed a homozygous missense mutation Trp599Arg (g.234T-->C according to Genbank accession number M20218). This residue belongs to a region conserved in human FXI and the FXI of several animals. Molecular modeling showed that the Trp599 residue is positioned in an alpha helix in...

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PMID: 15996948

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

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