Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency
- 1 February 2001
- journal article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 9 (2) , 105-112
- https://doi.org/10.1038/sj.ejhg.5200593
Abstract
The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.Keywords
This publication has 30 references indexed in Scilit:
- Twenty two novel mutations of the factor VII gene in factor VII deficiencyHuman Mutation, 2000
- A novel polymorphism in intron 1a of the human factor VII gene (G73A): study of a healthy Italian population and of 190 young survivors of myocardial infarctionBritish Journal of Haematology, 2000
- Molecular Characterisation and Three-Dimensional Structural Analysis of Mutations in 21 Unrelated Families with Inherited Factor VII DeficiencyThrombosis and Haemostasis, 2000
- Clinical manifestations in 28 Italian and Iranian patients with severe factor VII deficiencyHaemophilia, 1997
- Diagnosis strategies in activated protein C resistance: is genotyping still necessary?Clinical and Laboratory Haematology, 1997
- A missense mutation (178Cys↑Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII geneHuman Molecular Genetics, 1993
- Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7)Human Genetics, 1992
- A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals.Arteriosclerosis and Thrombosis: A Journal of Vascular Biology, 1991
- Comprehensive detection of single base changes in human genomic DNA using denaturing gradient gel electrophoresis and a GC clampGenomics, 1990
- Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation.Proceedings of the National Academy of Sciences, 1987