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Title: Two new missense mutations (P134T and A244V) in the coagulation factor VII gene
Authors: Alshinawi, Connie
Scerri, Christian
Galdies, Ruth
Aquilina, Alex
Felice, Alex E.
Keywords: Blood coagulation factors
Issue Date: 1998
Publisher: John Wiley & Sons
Citation: Alshinawi, C., Scerri, C., Galdies, R., Aquilina, A., & Felice, A. E. (1998). Two new missense mutations (P134T and A244V) in the coagulation factor VII gene. Human Mutation, Supp 1, S189-91.
Abstract: Hereditary coagulation factor VII (FVII) deficiency (Alexander et al., 1951) is a rare coagulopathy. Only 24 gene mutations (reviewed by Tuddenham et al., 1995) have been detected in the FVII gene, 13 of them occurring in exon 8, which encodes the catalytic domain. This report, describes two additional molecular variants identified in a Maltese kindred with hereditary FVII deficiency and established partial haplotypes, which could account for the diversity in levels of activity both among wild-type and mutant FVII proteins.
Description: We thank Dr. E Vassallo Agius, Director, Division of Paediatrics, St. Luke's Hospital, Malta, for kindly referring this family for investigations, and the members of this family for their courteous cooperation.
Appears in Collections:Scholarly Works - FacM&SPB

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