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Article

Double heterozygous mutations Gln100Leu and His348Gln of the F7 gene in a patient with factor VII deficiency.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Mar 2013

Li Min, Zheng Fangxiu, Jin Yanhui, Wang Mingshan, Zhu Liqing, Yang Lihong

Abstract excerpt

A 25-year-old Chinese woman who had a history of easy bruising was admitted to hospital due to uncontrolled epistaxis. She showed factor VII activity level of 2% and factor VII antigen level of 4% of the normal value. We detected a novel missense mutation g.8355 A>T (p.Gln100Leu) in the second ep...

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Identifiers

PMID: 23358202
DOI: 10.1097/MBC.0b013e3283551132

Genes

EGF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23358202-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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