Novel factor VII gene mutations in six families with hereditary coagulation factor VII deficiency

Introduction: Hereditary human coagulation factor VII (FVII) deficiency is an inherited autosomal recessive hemorrhagic disease involving mutations in the F7 gene. The sites and types of F7 mutations may influence the coagulation activities of plasma FVII (FVII: C) and severity of hemorrhage symptom...

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Main Authors:	Fang, Y. (Author), Feng, Q. (Author), Leng, S. (Author), Peng, J. (Author), Sheng, Z. (Author), Wang, S. (Author), Xu, S. (Author), Zhang, L. (Author), Zhang, X. (Author), Zhang, Y. (Author)
Format:	Article
Language:	English
Published:	John Wiley and Sons Inc 2021
Subjects:	5' untranslated region adolescent Adolescent adult Adult amino acid sequence Amino Acid Sequence Article binding site blood clotting disorder blood clotting factor 7 blood clotting factor 7 deficiency blood clotting test case report catalysis child Child Child, Preschool China clinical article cysteine dna mutational analysis DNA Mutational Analysis enzyme conformation factor VII Factor VII Factor VII Deficiency factor VII gene family female Female gene mutation gene sequence genetic analysis genetics glycine hereditary coagulation factor VII deficiency hereditary FVII deficiency human Humans infant Infant leucine male Male messenger RNA mutant protein mutation Mutation pathogenesis pathology patient information pedigree Pedigree pedigree analysis phenylalanine prediction preschool child protein conformation Protein Conformation protein domain protein function protein structure RNA sequence school child sequence homology Sequence Homology, Amino Acid serine university hospital young adult
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Novel factor VII gene mutations in six families with hereditary coagulation factor VII deficiency

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