ArticleHuman genetics1992
Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7).
Article in Human genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 73 citations in OpenAlex.
- Factor VII Padua: a systematic review of reported cases, diagnosis, clinical manifestations, and management strategies.Annals of hematology · 2026Pooled it
- Article
- Extensive genetic screening of Iranian Factor FVII-deficient individuals unraveled several novel mutations and postulated founder effects in some cases.Research and practice in thrombosis and haemostasis · 2023Article
- Personalized approach of medication by indirect anticoagulants tailored to the patient-Russian context: what are the prospects?The EPMA journal · 2012Article
- Association of ACE and FACTOR VII gene variability with the risk of coronary heart disease in north Indian population.Molecular and cellular biochemistry · 2010Article
- Oriented scanning is the leading mechanism underlying 5' splice site selection in mammals.PLoS genetics · 2006Article
- Clinical significance of gene-diagnosis for defects in coagulation factors and inhibitors.Wiener klinische Wochenschrift · 2003Review
- Minisatellite instability at the Adh locus reveals somatic polymorphism in amphioxus.Nucleic acids research · 2002Article
- Molecular study of human growth hormone gene cluster in three families with isolated growth hormone deficiency and similar phenotype.European journal of pediatrics · 1994Article
- Molecular analysis of factor VII deficiency in Italy: a frequent mutation (FVII Lazio) in a repeated intronic region.Human genetics · 1993Article
- A polymorphism in the 5' region of coagulation factor VII gene (F7) caused by an inserted decanucleotide.Human genetics · 1993Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The 3' portion of the coagulation factor VII gene, containing the activation and serine protease domains, was investigated in four subjects with factor VII deficiency by temperature gradient gel electrophoresis and sequencing of polymerase chain reaction (PCR) products. Molecules displaying an altered melting behaviour were detected in three subjects, and direct sequencing showed two mutations. A G-to-T transversion causing a missense mutation, Cys-310 to Phe, suppresses a disulphide bond conserved in the catalytic domain of all serine proteases. This mutation, which in the homozygous form causes a severe reduction in protease activity (4%), was found in two patients from different Italian regions. A G-to-A transition, which gives rise to a missense mutation, Arg-304 to Gln, and is associated with the factor VII padua variant, was found in the heterozygous form in a subject also affected by von Willebrand disease. Two polymorphic alleles, which differ in one repeat monomer element, were precisely mapped in a region spanning the exon-intron 7 border of the factor VII gene and studied in families with factor VII or X deficiency.
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