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Article

Factor VII Deficiency Due to Compound Heterozygosity for the p.Leu13Pro Mutation and a Novel Mutation in the HNF4 Binding Region (-58G>C) in the F7 Promoter.

The Kurume medical journal - 16 Nov 2022

Osaki Koichi, Sogabe Yoko, Seki Ritsuko, Nakamura Takayuki, Morishige Satoshi, Oku Eijiro, Takata Yuka, Mouri Fumihiko, Yoshimoto Koji, Nagafuji Koji, Okamura Takashi

Abstract excerpt

We investigated the molecular basis of factor VII (FVII) deficiency in a Japanese patient and identified compound heterozygous mutations. Factor VII activity and antigen levels in the patient were less than 5.0% and 6.5% of controls, respectively. All exons, exon-intron boundaries, and the 5' promoter region of F7 from genomic DNA were amplified using polymerase chain reaction (PCR). Sequencing analysis of PCR...

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PMID: 36123027
DOI: 10.2739/kurumemedj.MS6723006

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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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