A new Factor X defect (Factor X Padua 3): A compound heterozygous between true deficiency (Gly380→Arg) and an abnormality (Ser334→Pro)

Thrombosis Research

Volumn 104, Issue 4, 2001, Pages 257-264

  Vianello, Fabrizio ^a   Lombardi, Anna Maria ^a   Boldrin, Caterina ^a   Luni, Sonia ^a   Girolami, Antonio ^a,b  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

Author keywords

Factor X deficiency; Gene mutation; Haemorrhagic disorder

Indexed keywords

ARGININE; BLOOD CLOTTING FACTOR 10; GLYCINE; PROLINE; SERINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD CLOTTING FACTOR 10 DEFICIENCY; CASE REPORT; CATALYSIS; CONTROLLED STUDY; EXON; FEMALE; GEL ELECTROPHORESIS; HETEROZYGOTE; HUMAN; INTRON; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PARTIAL THROMBOPLASTIN TIME; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTHROMBIN TIME;

ADULT; ANTIGENS; DNA MUTATIONAL ANALYSIS; FACTOR X; FACTOR X DEFICIENCY; FAMILY HEALTH; FEMALE; HETEROZYGOTE; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION, MISSENSE; PARTIAL THROMBOPLASTIN TIME; PEDIGREE; PHENOTYPE;

EID: 0035891554     PISSN: 00493848     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0049-3848(01)00371-1     Document Type: Article

References (21)

1. Physiology and biochemistry of factor X
2. Characterization of a cDNA coding for human factor X
3. Heterogeneity of hereditary and acquired factor X deficiency by combined immunochemical and functional analyses
4. Factor X and its deficiency states
5. Stuart clotting defect. Segregation of a hereditary hemorrhagic state from the heterozygous heretofore called "stable factor" (SPCA, proconvertin factor VII deficiency)
6. Inherited factor X deficiency: Molecular genetics and pathophysiology
7. Tentative and updated classification of factor X variants
8. A new sensitive and highly specific chromogenic peptide substrate for factor Xa
9. A 'new' congenital haemorrhagic condition due to the presence of an abnormal factor X (factor X Friuli): Study of a large kindred
10. A dysfunctional factor X (factor X San Giovanni Rotondo) present at homozygous and double heterozygous level: Identification of a novel microdeletion (delC556) and missense mutation (Lys(408)→Asn) in the factor X gene. A study of an Italian family
11. Further studies on the abnormal factor X (factor X Friuli) coagulation disorder: A report of another family
12. A family with heterozygous factor X Friuli defect outside Friuli
13. Factor X Padua: A 'new' congenital factor X abnormality with a defect only in the extrinsic system
14. Cleavage of structural proteins during the assembly of the head of bacteriophage T4
15. Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: Procedure and some applications
16. Molecular defect in coagulation factor X Friuli results from a substitution of serine for proline at position 343
17. Precise carrier diagnosis in families with haemophilia A: Use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis
18. Structure of human des(1-45) factor Xa at 2.2 A resolution
19. SWISS-MODEL and the Swiss-PdbViewer: An environment for comparative protein modeling
20. Functional consequences of Ser 334 to Pro mutation in a factor X variant (factor X Marseille)
21. Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala→Val) and X (334Ser→Pro)