Genetic and Laboratory Diagnosis

Inherited Bleeding Disorders in Women

Volumn , Issue , 2009, Pages 90-98

  Tuddenham, Edward ^a  

^a ROYAL FREE HOSPITAL   (United Kingdom)

Author keywords

Combination of factor IX activity; Combining family tree with assay data; Construction of accurate family tree or genogram; Family tree segregated into two conditions hemophilia A and von Willebrand disease; Genetic and laboratory diagnosis; Sources of difficulty in diagnosis; VWD one of the commoner causes of bleeding in women

Indexed keywords

EID: 84872934501     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9781444303490.ch8     Document Type: Chapter

References (8)

1. Haemophilia A structure test and resource site (Hamsters); http://europium.csc.mrc.ac.uk/WebPages/Main/main.htm/.
2. Haemophilia B mutation database; http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html/.
3. ISTH SSC VWF Information Home Page; http://www.vwf.group.shef.ac.uk/sequences.html/.
4. Tuddenham EGD, Cooper DN. The molecular genetics of haemostasis and its inherited disorders. Oxford Monographs on Medical Genetics. Oxford University Press: Oxford 1994.
5. Lillicrap D. The molecular basis of haemophilia B. Haemophilia 1998; 4: 350-357.
6. Antonarakis SE, Kazazian HH, Tuddenham GD. Molecular etiology of factor VIII deficiency in hemophilia A. Hum Mutat 1995; 5: 1-22
7. Bogdanova N, Markoff A, Eisert R, et al. Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A. Hum Mutat 2005; 26: 249-254
8. Lillicrap D. Von Willebrand disease - phenotype versus genotype: deficiency versus disease. Thromb Res 2007; (Suppl 1): S11-16.