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A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Mar 2006

Yamakage N, Ikejiri M, Okumura K, Takagi A, Murate T, Matushita T, Naoe T, Yamamoto K, Takamatsu J, Yamazaki T, Hamaguchi M, Kojima T

Abstract excerpt

We investigated the molecular basis of a severe factor V (FV) deficiency in a Japanese female, and identified two distinct mutations in the FV gene, a novel cytosine insertion (1943insC) and a previously reported point mutation (A5279G). We expected the patient to be a compound heterozygote for those mutations, as a 1943insC, but not an A5279G, was found in the mother and a sibling. The 1943insC will cause a...

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PMID: 16476093
DOI: 10.1111/j.1365-2516.2006.01206.x

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

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