Article
Haemophilia A diagnosis by automated fluorescent DNA detection of ten factor VIII intron 13 dinucleotide repeat alleles.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Aug 1994
Kochhan L, Lalloz M R, Oldenburg J, McVey J H, Olek K, Brackmann H H, Tuddenham E G, Schwaab R
Abstract excerpt
Haemophilia A is a recessive X linked bleeding disorder caused by deficiency or functional abnormality of coagulation factor VIII. This disease usually has no visible phenotype in female carriers; hence, great efforts are made to offer all haemophilia A families accurate carrier diagnosis. Signif...
Topics
- Alleles
- Base Sequence
- Factor VIII
- Female
- Genetic Carrier Screening
- Hemophilia A
- Humans
- Introns
- Male
- Minisatellite Repeats
- Molecular Sequence Data
- Mosaicism