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. Significant progress in this direction was made with the identification of the intron 13 variable number tandem repeat...
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