A missense mutation (Y1702C) in the coagulation factor V gene is a frequent cause of factor V deficiency in the italian population

Haematologica

Volumn 86, Issue 6, 2001, Pages 629-633

  Castoldi, E ^a   Lunghi, B ^a   Mingozzi, F ^a   Muleo, G ^a   Redaelli, R ^a   Mariani, G ^a   Bernardi, F ^a  

^a UNIVERSITY OF FERRARA   (Italy)

Author keywords

Factor V deficiency; Haplotype; Recurrence; VNTR

Indexed keywords

BLOOD CLOTTING FACTOR 5;

ADOLESCENT; ADULT; ARTICLE; BLOOD CLOTTING FACTOR 5 DEFICIENCY; CASE REPORT; FEMALE; GENETIC SCREENING; GENOTYPE; HUMAN; ITALY; MALE; MISSENSE MUTATION; PEDIGREE ANALYSIS; PHENOTYPE; PREVALENCE;

ADOLESCENT; ADULT; DNA MUTATIONAL ANALYSIS; FACTOR V; FACTOR V DEFICIENCY; FEMALE; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION, MISSENSE;

EID: 0034955993     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Parahaemophilia: Haemorrhagic diathesis due to absence of a previously unknown clotting factor
2. Symptoms of inherited factor V deficiency in 35 Iranian patients
3. Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene
4. A novel factor V null mutation detected in a thrombophilic patient with pseudo-homozygous APC resistance and in an asymptomatic unrelated subject
5. A novel factor V null mutation at Arg 506 causes a false positive Factor V Leiden result
6. Gene symbol: F5 Disease: FV deficiency
7. Molecular bases of pseudo-homozygous APC resistance: The compound heterozygosity for FV R506Q and a FV null mutation results in the exclusive presence of FV Leiden molecules in plasma
8. Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: Factor V Stanford
9. A novel two base pair deletion in the factor V gene associated with severe factor V deficiency
10. "Pseudo homozygous" activated protein C resistance due to double heterozygous factor V defects (factor V Leiden mutation and type I quantitative factor V defect) associated with thrombosis: Report of two cases belonging to two unrelated kindreds
11. Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family
12. Severe factor V deficiency presenting as subdural haematoma in the newborn
13. Intracranial haemorrhage due to factor V deficiency
14. Severe factor V deficiency and neonatal intracranial haemorrhage: A case report