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DC Field | Value | Language |
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dc.contributor.author | Alshinawi, Connie | - |
dc.contributor.author | Scerri, Christian A. | - |
dc.contributor.author | Galdies, Ruth | - |
dc.contributor.author | Aquilina, Alex | - |
dc.contributor.author | Felice, Alex | - |
dc.date.accessioned | 2018-03-16T14:43:54Z | - |
dc.date.available | 2018-03-16T14:43:54Z | - |
dc.date.issued | 1998 | - |
dc.identifier.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. | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar//handle/123456789/28056 | - |
dc.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. | en_GB |
dc.description.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. | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | John Wiley & Sons | en_GB |
dc.rights | info:eu-repo/semantics/restrictedAccess | en_GB |
dc.subject | Blood coagulation factors | en_GB |
dc.title | Two new missense mutations (P134T and A244V) in the coagulation factor VII gene | en_GB |
dc.type | article | en_GB |
dc.rights.holder | The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder. | en_GB |
dc.description.reviewed | peer-reviewed | en_GB |
dc.identifier.doi | 10.1002/humu.1380110161 | - |
dc.publication.title | Human Mutation | en_GB |
Appears in Collections: | Scholarly Works - FacM&SPB |
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