Portal de Periódicos da CAPES

Phenotypic variability in a family with haemophilia B and prothrombin G20210A

2011; Wiley; Volume: 18; Issue: 1 Linguagem: Inglês

10.1111/j.1365-2516.2011.02661.x

1365-2516

C. P. BELTRÁN‐MIRANDA, Hilda Luna‐Záizar, José de Jesús López‐Jiménez, J. M. MANTILLA‐CAPACHO, Michael Laffan, Ana Rebeca Jaloma‐Cruz,

Cancer-related gene regulation

HaemophiliaVolume 18, Issue 1 p. e22-e23 LETTERS TO THE EDITORS Phenotypic variability in a family with haemophilia B and prothrombin G20210A C. P. BELTRÁN-MIRANDA, C. P. BELTRÁN-MIRANDA Centro Universitario del Sur. Departamento de Salud y Bienestar. Universidad de Guadalajara. Ciudad Guzmán, Jalisco, MéxicoSearch for more papers by this authorH. LUNA-ZÁIZAR, H. LUNA-ZÁIZAR Centro Universitario de Ciencias Exactas e Ingenierías, CUCEI, Universidad de Guadalajara. Guadalajara, Jalisco, MéxicoSearch for more papers by this authorJ. J. LÓPEZ-JIMÉNEZ, J. J. LÓPEZ-JIMÉNEZ División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Jalisco, MéxicoSearch for more papers by this authorJ. M. MANTILLA-CAPACHO, J. M. MANTILLA-CAPACHO División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Jalisco, MéxicoSearch for more papers by this authorM. LAFFAN, M. LAFFAN Department of Haematology, Imperial College London, Hammersmith Hospital, London, UKSearch for more papers by this authorA. R. JALOMA-CRUZ, A. R. JALOMA-CRUZ División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Jalisco, MéxicoSearch for more papers by this author C. P. BELTRÁN-MIRANDA, C. P. BELTRÁN-MIRANDA Centro Universitario del Sur. Departamento de Salud y Bienestar. Universidad de Guadalajara. Ciudad Guzmán, Jalisco, MéxicoSearch for more papers by this authorH. LUNA-ZÁIZAR, H. LUNA-ZÁIZAR Centro Universitario de Ciencias Exactas e Ingenierías, CUCEI, Universidad de Guadalajara. Guadalajara, Jalisco, MéxicoSearch for more papers by this authorJ. J. LÓPEZ-JIMÉNEZ, J. J. LÓPEZ-JIMÉNEZ División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Jalisco, MéxicoSearch for more papers by this authorJ. M. MANTILLA-CAPACHO, J. M. MANTILLA-CAPACHO División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Jalisco, MéxicoSearch for more papers by this authorM. LAFFAN, M. LAFFAN Department of Haematology, Imperial College London, Hammersmith Hospital, London, UKSearch for more papers by this authorA. R. JALOMA-CRUZ, A. R. JALOMA-CRUZ División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Jalisco, MéxicoSearch for more papers by this author First published: 10 October 2011 https://doi.org/10.1111/j.1365-2516.2011.02661.xCitations: 2 Ana Rebeca Jaloma Cruz, PhD, Centro de Investigación Biomédica de Occidente, IMSS., Sierra Mojada 800, Col. Independencia, C.P. 44340, A.P. 1-3838, Guadalajara, Jalisco, México. Tel.: +52 33 3618 9410; fax: +52 33 3618 1756; e-mail: [email protected] Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. References 1 Tizzano EF, Soria JM, Coll I et al. The prothrombin (20210A) allele Influences clinical manifestations of hemophilia A in patients with intron 22 inversion and without inhibitors. Haematologica 2002; 87: 279– 85. 2 Lee DH, Walker IR, Teitel J et al. Effect of the factor V Leiden mutation on the clinical expression of severe hemophilia A. Thromb Haemost 2000; 83: 387– 91. 3 Nichols WC, Amano K, Cacheris PM et al. Moderation of hemophilia A phenotype by the factor V R506Q mutation. Blood 1996; 88: 1183– 7. 4 Turecek PL, Váradi K, Gritsch H, Schwarz HP. FEIBA: mode of action. Haemophilia 2004; 10(suppl 2): 3– 9. 5 Hemker HC, Giesen P, Al Dieri R et al. Calibrated automated thrombin generation measurement in clotting plasma. Pathophysiol Haemost Thromb 2003; 33: 4– 15. 6 Beltrán-Miranda CP, Khan A, Jaloma-Cruz AR, Laffan M. Thrombin generation and genotype-phenotype correlation in haemophilia A. Haemophilia 2005; 11: 326– 34. Citing Literature Volume18, Issue1January 2012Pages e22-e23 ReferencesRelatedInformation