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Article

Compound heterozygosity for two novel mutations in a severe factor XI deficiency.

American journal of hematology - 1 Aug 2003

Tsukahara Akiko, Yamada Takayuki, Takagi Akira, Murate Takashi, Matsushita Tadashi, Saito Hidehiko, Kojima Tetsuhito

Abstract excerpt

We identified two novel mutations in an asymptomatic 25-year-old Japanese patient with severe factor XI deficiency. Direct sequencing analysis of PCR products from his factor XI gene revealed a G to T transversion in exon 12, resulting in the nonsense mutation (Glu447Stop) and a G insertion in five consecutive guanine nucleotides ((501)Trp(TGG)-(502)Gly(GGG)) in exon 13 that is expected to lead to the...

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PMID: 12879434
DOI: 10.1002/ajh.10378

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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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