11 hemophilia A patients without mutations in the factor VIII encoding gene

Thrombosis and Haemostasis

Volumn 88, Issue 2, 2002, Pages 357-360

  Klopp, N ^a   Oldenburg, Jochen ^a   Uen, C ^a   Schneppenheim, R ^a   Graw, J ^a  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; BLOOD CLOTTING FACTOR 7; DNA;

ADULT; AMINO ACID COMPOSITION; CLINICAL ARTICLE; CODON; DISEASE SEVERITY; DNA FLANKING REGION; DNA PROBE; DNA SPLICING; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC SCREENING; HEMOPHILIA A; HUMAN; INTRON; LETTER; MALE; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION;

EID: 0036331974     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1613212     Document Type: Letter

References (14)

1. Analysis of factor VIII mRNA levels reveals defects in everyone of 28 haemophilia A patients
2. Inversions disrupting the factor VIII gene as a common cause of severe hemophilia A
3. Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein
4. Mutation profiling in Haemophilia A
5. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A
6. Hemophilic factor VIII C1- and C2-domain missens mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure
7. Pre-mRNA splicing: The discovery of a new spliceosome doubles the challenge
8. Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: Identification of 14 novel mutation
9. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII
10. Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: Family studies indicate a mutation type dependent sex ratio of mutation frequencies
11. Molecular biology of blood coagulation
12. Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type I
13. Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease
14. Somatic mosaicism in hemophilia A: A fairly common event