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There are 14744 results for: content related to: A synonymous mutation in LMAN1 creates an ectopic splice donor site and causes combined deficiency of FV and FVIII

  1. You have free access to this content
    Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII

    FEBS Letters

    Volume 584, Issue 5, March 05, 2010, Pages: 878–882, Edvard Wigren, Jean-Marie Bourhis, Inari Kursula, Jodie E. Guy and Ylva Lindqvist

    Version of Record online : 9 FEB 2010, DOI: 10.1016/j.febslet.2010.02.009

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    Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders

    Journal of Thrombosis and Haemostasis

    Volume 2, Issue 9, September 2004, Pages: 1564–1572, B. Zhang and D. Ginsburg

    Version of Record online : 26 AUG 2004, DOI: 10.1111/j.1538-7836.2004.00857.x

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    A novel missense mutation causing abnormal LMAN1 in a Japanese patient with combined deficiency of factor V and factor VIII

    American Journal of Hematology

    Volume 84, Issue 11, November 2009, Pages: 738–742, Takayuki Yamada, Yuta Fujimori, Atsuo Suzuki, Yuhri Miyawaki, Akira Takagi, Takashi Murate, Masayuki Sano, Tadashi Matsushita, Hidehiko Saito and Tetsuhito Kojima

    Version of Record online : 18 AUG 2009, DOI: 10.1002/ajh.21532

  4. Factor V and Combined Factor V and VIII Deficiencies

    Textbook of Hemophilia, Second Edition

    Flora Peyvandi, Marta Spreafico, Pages: 332–340, 2010

    Published Online : 13 AUG 2010, DOI: 10.1002/9781444318555.ch50

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    Cargo Selectivity of the ERGIC-53/MCFD2 Transport Receptor Complex

    Traffic

    Volume 7, Issue 11, November 2006, Pages: 1473–1481, Beat Nyfeler, Bin Zhang, David Ginsburg, Randal J. Kaufman and Hans-Peter Hauri

    Version of Record online : 31 AUG 2006, DOI: 10.1111/j.1600-0854.2006.00483.x

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    Abstracts

    Journal of Thrombosis and Haemostasis

    Volume 13, Issue S2, June 2015, Pages: 1–997,

    Version of Record online : 3 JUN 2015, DOI: 10.1111/jth.12993

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    Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII

    American Journal of Hematology

    Volume 79, Issue 4, August 2005, Pages: 262–266, Dipika Mohanty, Kanjaksha Ghosh, Shrimati Shetty, Marta Spreafico, Isabella Garagiola and Flora Peyvandi

    Version of Record online : 25 JUL 2005, DOI: 10.1002/ajh.20397

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    Identification of the first Rho–GEF inhibitor, TRIPα, which targets the RhoA-specific GEF domain of Trio

    FEBS Letters

    Volume 523, Issue 1-3, July 17, 2002, Pages: 35–42, Susanne Schmidt, Sylvie Diriong, Jean Méry, Eric Fabbrizio and Anne Debant

    Version of Record online : 21 AUG 2010, DOI: 10.1016/S0014-5793(02)02928-9

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    Recent developments in the understanding of the combined deficiency of FV and FVIII

    British Journal of Haematology

    Volume 145, Issue 1, April 2009, Pages: 15–23, Bin Zhang

    Version of Record online : 21 JAN 2009, DOI: 10.1111/j.1365-2141.2008.07559.x

  10. Combined FV and FVIII deficiency (F5F8D) in a Chinese family with a novel missense mutation in MCFD2 gene

    Haemophilia

    Volume 20, Issue 6, November 2014, Pages: e436–e438, A. Wang, X. Liu, J. Wu, X. Cai, W. Zhu and Z. Sun

    Version of Record online : 30 OCT 2014, DOI: 10.1111/hae.12549

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    Mutations in the MCFD2 gene are predominant among patients with hereditary combined FV and FVIII deficiency (F5F8D) in India

    Haemophilia

    Volume 13, Issue 4, July 2007, Pages: 413–419, G. JAYANDHARAN, M. SPREAFICO, A. VISWABANDYA, M. CHANDY, A. SRIVASTAVA and F. PEYVANDI

    Version of Record online : 2 MAY 2007, DOI: 10.1111/j.1365-2516.2007.01477.x

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    Posters

    Journal of Thrombosis and Haemostasis

    Volume 7, Issue s2, July 2009, Pages: 317–1168,

    Version of Record online : 15 JUN 2009, DOI: 10.1111/j.1538-7836.2009.03473_2.x

  13. Rare Bleeding Disorders

    Postgraduate Haematology, Sixth edition

    Flora Peyvandi, Marzia Menegatti, Pages: 813–838, 2010

    Published Online : 16 NOV 2010, DOI: 10.1002/9781444323160.ch42

  14. Analysis of newly detected mutations in the MCFD2 gene giving rise to combined deficiency of coagulation factors V and VIII

    Haemophilia

    Volume 17, Issue 5, September 2011, Pages: e923–e927, H. ELMAHMOUDI, E. WIGREN, A. LAATIRI, A. JLIZI, A. ELGAAIED, E. GOUIDER and Y. LINDQVIST

    Version of Record online : 15 APR 2011, DOI: 10.1111/j.1365-2516.2011.02529.x

  15. Successful abdominal operation without replacement therapy in a patient with combined factor V (FV) and FVIII deficiency due to novel homozygous mutation in LMAN1

    Haemophilia

    Volume 21, Issue 6, November 2015, Pages: e492–e494, A. Wang, Q. Duan, K. Ding, X. Liu, J. Wu and Z. Sun

    Version of Record online : 20 JUL 2015, DOI: 10.1111/hae.12756

  16. Knockout of major leaf ferredoxin reveals new redox-regulatory adaptations in Arabidopsis thaliana

    Physiologia Plantarum

    Volume 133, Issue 3, July 2008, Pages: 584–598, Ingo Voss, Meike Koelmann, Joanna Wojtera, Simone Holtgrefe, Camillo Kitzmann, Jan E Backhausen and Renate Scheibe

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-3054.2008.01112.x

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    Abstract

    Journal of Thrombosis and Haemostasis

    Volume 1, Issue S1, July 2003, Pages: OC073–OC108,

    Version of Record online : 7 MAR 2014, DOI: 10.1111/j.1538-7836.2003.tb00071.x

  18. Inherited Combined Factor Deficiency States

    Hemostasis and Thrombosis

    Asma Latif, Louis Aledort, Pages: 127–136, 2014

    Published Online : 14 FEB 2014, DOI: 10.1002/9781118833391.ch10

  19. The fine structure of the perigeniculate nucleus in the cat

    Journal of Comparative Neurology

    Volume 210, Issue 4, 1 October 1982, Pages: 317–334, Linda S. Ide

    Version of Record online : 9 OCT 2004, DOI: 10.1002/cne.902100402

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    Guideline for the diagnosis and management of the rare coagulation disorders

    British Journal of Haematology

    Volume 167, Issue 3, November 2014, Pages: 304–326, Andrew D. Mumford, Sam Ackroyd, Raza Alikhan, Louise Bowles, Pratima Chowdary, John Grainger, Jason Mainwaring, Mary Mathias, Niamh O'Connell and on behalf of the BCSH Committee

    Version of Record online : 6 AUG 2014, DOI: 10.1111/bjh.13058