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Inversion analysis in Japanese patients with hemophilia A

Blood 84(10 SUPPL 1): 61A

Inversion analysis in Japanese patients with hemophilia A

Accession: 032029644

Related references

Inaba, H.; Shibata, H.; Yoshida, S.; Hagiwara, T.; Hanabusa, H.; Nagao, T.; Fukutake, K., 1995: Inversion in Japanese patients with hemophilia A. Thrombosis and Haemostasis 74(2): 810-810

Poláková, H.; Kádasi, L.; Filová, A., 1999: Analysis of inversion in intron 22 of the factor F VIII:C gene in patients with hemophilia A in the Slovak population. Hemophilia A is the result of Factor F VIIIC (F8C) gene mutations. Predominating mutation is inversion, occurring in about 50% of patients with severe form of the disease. Inversion is the result of homologous recombination between gene A located...

Chen, Y.D.; Zhang, Y.Z.; Wu, J.S.; Wang, H.L.; Shao, H.Z.; Ren, Z.R.; Chen, Z.; Wang, Z.Y.; Zeng, Y.T., 1995: Molecular analysis of inversion mutations in the factor VIII gene in Chinese patients with hemophilia A. Blood 86(10 SUPPL 1): 867A

Miyawaki, Y.; Suzuki, A.; Fujimori, Y.; Takagi, A.; Murate, T.; Suzuki, N.; Katsumi, A.; Naoe, T.; Yamamoto, K.; Matsushita, T.; Takamatsu, J.; Kojima, T., 2010: Severe hemophilia A in a Japanese female caused by an F8-intron 22 inversion associated with skewed X chromosome inactivation. International Journal of Hematology 92(2): 405-408

Yan, Z-yu.; Liang, Y.; Yan, M.; Fan, L-kai.; Xiao, B.; Hua, B-lai.; Liu, J-zhong.; Zhao, Y-qiang., 2009: Frequency of intron 1 inversion of factor VIII gene in Chinese hemophilia A patients with case report of a female patient with heterozygous intron 1 inversion. To investigate the frequency of intron 1 inversion (inv1) in FVIII gene in Chinese hemophilia A (HA) patients and to investigate the mechanism of pathogenesis. Peripheral blood samples were collected from 158 unrelated HA patients, aged 20 (1 - 73...

Ononye, C.; Jenkins, P.V., 1999: Inversion mutation analysis in hemophilia a by restriction enzyme analysis and southern blotting. Intron 22 of the factor VIII gene contains a 9.5kb region of DNA that is repeated on at least two other locations telomeric to, and at least 500 kb from, the gene. These regions are termed intron 22 homologous regions (int22h) (1) and contain the...

Sawecka, J.; Skulimowska, J.; Koscielak, J., 2000: Inversion mutations in patients with severe hemophilia A. Five inversion mutations were found among 10 patients with a severe form of hemophilia A. Three mutations belonged to a distal- and two to proximal type. The mutations were identified by the technique of Southern blotting with the use of FVIIIA pr...

Fidancı, İnanç.Değer.; Aydoğdu, T.; Çağlayan, H., 2006: Intron 1 inversion mutation among Turkish hemophilia A patients. Genellikle Faktör VIII (F8) geninde oluşan heterojen nokta mutasyonlarının neden olduğu hemofili A, kalıtımı X-kromozomuna bağlı olan kanama bozukluklarındandır. Hastalığın moleküler patogenezi ayrıca, küçük/büyük gen delesyo...

Okamoto, Y.; Ohnishi, M.; Yamanaka, T.; Fujimura, Y.; Shima, M.; Yoshioka, A.; Tateshima, S.; Kubota, C.; Nakano, H., 1999: Detection and genotype analysis of GB virus C/hepatitis G virus (GBV-C/HGV) in the sera of Japanese patients with hemophilia A. The recently discovered GB virus C/hepatitis G virus (GBV-C/HGV) has been shown to be scarcely associated with hepatitis, though its possible pathogenesis remains unknown. In previous report, we designed primers for semi-nested reverse transcripti...

Mori, P.G.; Caprino, D.; Bicocchi, M.P.; Valetto, A.; Bottini, F.; Aquila, M., 1997: Inversion mutation as a major cause of severe hemophilia A in Italian patients. We investigated the presence of a recombinant event between the F8A gene located in intron 22 of the factor VIII gene and the two additional copies of F8A lying 500 Kb upstream of FVIII in severe hemophilic patients. The genomic DNA of 146 unrelat...