Literature DB >> 6812354

Factor VII Padua defect: the heterozygote population.

A Girolami, R Dal Bo Zanon, F Zanella, M Procidano, G Ruffato.   

Abstract

14 heterozygote patients, belonging to three families with factor VII Padua defect were investigated. All patients were asymptomatic but presented a mild prolongation of prothrombin time. Factor VII activity varied between 45 and 61% of normal and no overlap was found with the homozygous or the normal populations. On the contrary, factor VII cross-reacting material was normal. A good negative correlation was found between factor VII level and prothrombin times. All patients came from the same valley of northeastern Italy. This valley, the Piave river valley, is not far from the valley where the factor X Friuli defect was found. The significance of this peculiar geographical distribution of the two abnormalities is unknown.

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Year:  1982        PMID: 6812354     DOI: 10.1159/000206945

Source DB:  PubMed          Journal:  Acta Haematol        ISSN: 0001-5792            Impact factor:   2.195


  3 in total

1.  Molecular analysis of factor VII deficiency in Italy: a frequent mutation (FVII Lazio) in a repeated intronic region.

Authors:  F Bernardi; P Patracchini; D Gemmati; M Ferrati; P Arcieri; M Papacchini; R Redaelli; F Baudo; G Mariani; G Marchetti
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132

2.  A new family with classical factor X deficiency as demonstrated by electroimmunoassay.

Authors:  A Girolami; G Luzzatto; N Scattolo; F A Zanolli
Journal:  Blut       Date:  1983-07

3.  Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7).

Authors:  G Marchetti; P Patracchini; D Gemmati; V DeRosa; M Pinotti; G Rodorigo; A Casonato; A Girolami; F Bernardi
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132

  3 in total

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