Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data

British Journal of Haematology

Volumn 112, Issue 4, 2001, Pages 1062-1070

  Ivaskevicius, Vytautas ^a,b,e   Jurgutis, Romualdas ^a   Rost, Simone ^b   Müller, Alexandra ^c   Schmitt, Christoph ^c   Wulff, Karin ^d   Herrmann, Falko H ^d   Müller, Clemens R ^b   Schwaab, Rainer ^c   Oldenburg, Johannes ^b,c  

^a Klaipeda Seamen's Hospital   (Lithuania)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c UNIVERSITY OF BONN   (Germany)

^d UNIVERSITY OF GREIFSWALD   (Germany)

^e Biozentrum ^*  (Germany)

Author keywords

Genotype; Haemophilia A; Haemophilia B; Lithuania; Phenotype

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; VON WILLEBRAND FACTOR;

ARTICLE; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HEMOPHILIA A; HEMOPHILIA B; HUMAN; LITHUANIA; MAJOR CLINICAL STUDY; MALE; MOSAICISM; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOMATIC MUTATION;

FACTOR IX; FACTOR VIII; FEMALE; GENOTYPE; GERM-LINE MUTATION; HEMOPHILIA A; HEMOPHILIA B; HETEROZYGOTE DETECTION; HUMANS; LITHUANIA; MALE; PEDIGREE; PHENOTYPE; REGISTRIES;

EID: 0035044695     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2001.02671.x     Document Type: Article

References (41)

1. Factor VIII gene inversions in severe hemophilia A: Results of an international consortium study
2. Characterisation of a thrombin cleavage site mutation (Arg1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting materialpositive haemophilia A
3. Characterisation of the factor VIII defect in 147 patients with sporadic hemophilia A: Family studies indicate a mutation type-dependent sex ratio of mutation frequencies
4. Enzyme immunoassay for factor VIII-related antigen
5. Inversions in haemophilia A
6. The CpG dinucleotide and human genetic disease
7. Factor VIIIa A2 subunit residues 558-565 represent a factor IXa interactive site
8. Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene
9. Haemophilia B: Database of point mutations and short additions and deletions - Eighth edition
10. Mutations of factor VIII cleavage sites in hemophilia A
11. Factor VIII gene rearrangements in patients with severe haemophilia A
12. Molecular characterisation of mild-to-moderate haemophilia A: Detection of mutation in 25 of 29 patients by denaturing gradient gel electrophoresis
13. Molecular characterisation of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene
14. Laboratory performance of haemophilia centres in developing countries: 3 years' experience of the World Federation of Hemophilia External Quality Assessment Scheme
15. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
16. Haemophilia A diagnosis by simultaneous analysis of two variable dinucleotide tandem repeats within the factor VIII gene
17. Characterisation of genetic defects of haemophilia A in patients of Chinese origin
18. Inversions of the factor VIII gene in Swedish patients with severe haemophilia A
19. A method for assaying von Willebrand factor (ristocetin cofactor)
20. A simple salting out procedure for extracting DNA from human nucleated cells
21. Analysis of factor VIII mRNA defects in everyone of 28 haemophilia A patients
22. Moderation of hemophilia A phenotype by the factor V R506Q mutation
23. Comparative DNA sequence by denaturing high performance liquid chromatography (DHPLC)
24. DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC)
25. Small deletion/insertion mutations within poly-A runs of the factor VIII gene mitigate the severe haemophilia A phenotype
26. Evaluation of DHPLC in the analysis of Haemophilia A
27. CRM+ haemophilia A due to a missense mutation (372Cys) at the internal heavy chain thrombin cleavage site
28. Screening for mutations in haemophilia A patients by multiplex PCR-SSCP. Southern blotting and RNA analysis: The detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients
29. Biochemical, immunological, and in vivo functional characterization of B-domain-deleted factor VIII
30. Three missense mutations in Arg codons of the factor VIII genes of mild to moderately severe hemophilia A patients
31. Rapid PCR analysis of the St 14 (DXS52) VNTR
32. Investigation of factor VIII-antigen levels of patients with haemophilia A by a new highly sensitive enzyme linked immunosorbent assay (ELISA)
33. Characterization of mutations within the factor VIII Gene of 73 unrelated mild and moderate haemophiliacs
34. Haemophilia A. Mutation type determines risk of inhibitor formation
35. An arginine to cysteine amino acid substitution at a critical thrombin cleavage site in a dysfunctional factor VIII molecule
36. Occurrence of hemophilia in the United States
37. The Nijmegen modification of the Bethesda assay for factor VIII: C inhibitors: Improved specificity and reliability
38. Start of UK confidential haemophilia A database: Analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch
39. Twenty-five novel mutations of the factor IX gene in haemophilia B
40. Partial correction of a severe molecular defect in haemophilia A, because of errors during expression of the factor VIII gene