The problem of novel FVIII missense mutations for haemophilia A genetic counseling

Hamostaseologie

Volumn 29, Issue 2, 2009, Pages 158-160

  Schneppenheim, R ^a   Schroder, J ^b   Obser, T ^a   Oyen, F ^a   Schneppenheim, S ^c   Oldenburg, J ^b  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY HOSPITAL BONN   (Germany)

^c Aesculabor Hamburg GmbH   (Germany)

Author keywords

Factor VIII; Haemophilia A; Molecular genetics; Recombinant FVIII

Indexed keywords

BLOOD CLOTTING FACTOR 8; COMPLEMENTARY DNA; DNA;

AMNIOCENTESIS; AMNION FLUID; ARTICLE; BLEEDING; CODON; DNA EXTRACTION; DNA LIBRARY; ENZYME ACTIVITY; EXON; GENETIC COUNSELING; HEMOPHILIA A; LEUKOCYTE; MISSENSE MUTATION; MOLECULAR CLONING; MUTAGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; SITE DIRECTED MUTAGENESIS; WILD TYPE;

EID: 66749091223     PISSN: 07209355     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1617016     Document Type: Article

References (5)

1. Guillet B, Lambert T, d'Oiron R et al. Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution. Hum Mutat 2006; 27: 676-685.
2. Oldenburg J, Pavlova A. Genetic risk factors for inhibitors to factors VIII and IX. Haemophilia 2006; 12 (Suppl 6): 15-22.
3. Viel KR, Machiah DK, Warren DM et al. A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels. Blood 2007; 109: 3713-3724.
4. http://europium.csc.mrc.ac.uk/WebPages/Main/main.htm
5. http://www.ncbi.nlm.nih.gov/sites/entrez