Two novel mutations in severe factor VII deficiency
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.2004.04997.x/fullpdf
Reference20 articles.
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2. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group;Antonarakis;Human Mutation,1998
3. Severe factor VII deficiency due to a mutation disrupting a hepatocyte nuclear factor 4 binding site in the factor VII promoter;Arbini;Blood,1997
4. Prenatal exclusion of severe factor VII deficiency;Ariffin;Journal of Pediatric Hematology/Oncology,2003
5. The crystal structure of the complex of blood coagulation factor VIIa with soluble tissue factor;Banner;Nature,1996
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1. 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;2023-01
2. Molecular spectrum of inherited FVII deficiency in North India revealed a recurrent variant with a founder effect;Haemophilia;2022-12-26
3. Phenotypic and genotypic characterization of Factor VII deficiency patients from Western India;Clinica Chimica Acta;2009-11
4. A novel homozygous missense mutation in the factor VII gene of severe factor VII deficiency in a newborn baby;Blood Coagulation & Fibrinolysis;2009-03
5. Characterization of combined factor VII and factor XI deficiencies;Haemophilia;2008-05
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