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Article

Compound heterozygous mutations in severe factor VII deficiency including a novel nonsense mutation.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jan 2008

Lee Sun-Min, Heo Yong-Seok, Lee Eun-Yup, Chang Chulhun L, Shin Ho-Jin, Chung Joo-Seop, Hwang Sang-Hyun

Abstract excerpt

A 26-year-old man who had a history of recurrent spontaneous nasal bleeding was admitted to our hospital with uncontrolled traumatic subdural hemorrhage. His plasma factor VII activity was less than 10% of normal. DNA sequence analysis revealed that the proband had a compound heterozygote for a novel nonsense mutation (F7 NM_000131.2 c.345C > A; p.Cys115X) in exon 4 encoding the EGF1 domain and a known missense...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Identifiers

PMID: 18180623
DOI: 10.1097/MBC.0b013e3282f185ed

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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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