Carrier detection in Japanese haemophilia a families using factor VIII gene probe (F8A) and the gene-linked ST 14-1 probe
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical)
Link
http://www.nature.com/articles/jhg198720.pdf
Reference25 articles.
1. Antonarakis, S.E., Copeland, K.L., Carpenter, R.J., Carta, C.A., Hoyer, L.W., Caskey, C.T., Toole, J.J., and Kazazian, H.H., Jr. 1985a. Prenatal diagnosis of haemophilia A by factor VIII gene analysis.Lancet I: 1407–1409.
2. Antonarakis, S.E., Warber, P.G., Smita, M.S., Kittur, D., Patel, A.S., Kazazian, H.H., Jr., Mellis, M.A., Counts, R.B., Stamatoyannopoulos, G., Bowie, E.J.W., Fass, D.N., Pitman, D.D., Woozney, J.M., and Toole, J.J. 1985b. Hemophilia A: Detection of molecular defects and carriers by DNA analysis.N. Engl. J. Med. 313:842–848.
3. Drayna, D., Davie, K., Hartley, D., Mandel, J.-L., Camerino, G., Williamson, R., and White, R. 1984. Genetic mapping of human X chromosome by using restriction frament length polymorphisms.Proc. Natl. Acad. Sci. U.S.A. 81:2836–2839.
4. Driscoll, M.C., Miller, C.H., Goldberg, J.D., Aledort, L.M., Hoyer, L.W., and Golbus, M.S. 1986. Recombination between factor VIII: C gene and ST 14 locus.Lancet II:279.
5. Gitschier, J., Wood, W.I., Goralka, T.M., Wion, K.L., Chen, E.Y., Eaton, D.H., Vehar, G.A., Capon, D.J., and Lawn, R.M. 1984. Characterization of the human factor VIII gene.Nature 312:326–330.
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1. Common intragenic and extragenic polymorphisms of blood coagulation factors VIII and IX are different in Chinese and Caucasian populations;Clinical Genetics;2008-06-28
2. First trimester prenatal diagnosis of haemophilia a using factor VIII gene probe;Japanese journal of human genetics;1989-06
3. Nonsense mutation in factor VIII gene of a severe haemophiliac patient with anti-factor VIII antibody;Japanese journal of human genetics;1988-12
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