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3
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4
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本文引用的文献
1
The inheritance of Christmas factor.
Br J Haematol. 1962 Jul;8:191-203. doi: 10.1111/j.1365-2141.1962.tb06512.x.
2
Genetic variants of hemophilia B: detection by means of a specific PTC inhibitor.
J Clin Invest. 1968 Feb;47(2):360-5. doi: 10.1172/JCI105732.
3
Use of chromogenic peptide substrates in the determination of clotting factors II, VII, IX and X in normal plasma and in plasma of patients treated with oral anticoagulants.
Haemostasis. 1982;12(3):241-55. doi: 10.1159/000214679.
4
Detection of hemophilia carriers during pregnancy.
Blood. 1982 Dec;60(6):1407-10.
5
A canine model of hemophilic (factor VIII:C deficiency) bleeding.
Blood. 1982 Sep;60(3):727-30.
6
Characterization of the human factor VIII gene.
Nature. 1984;312(5992):326-30. doi: 10.1038/312326a0.
7
Factor VIII levels and blood group antigens.
Thromb Haemost. 1983 Oct 31;50(3):757.
8
A maximum likelihood estimate of the sex ratio of mutation rates in haemophilia A.
Hum Genet. 1983;64(2):156-9. doi: 10.1007/BF00327115.
9
Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms.
Nucleic Acids Res. 1984 Dec 11;12(23):8861-72. doi: 10.1093/nar/12.23.8861.
10
Detection of carriers of classic hemophilia using an immunologic assay for antihemophilic factor (factor 8().
J Clin Invest. 1971 Jan;50(1):255-8. doi: 10.1172/JCI106481.
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