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There are 18615 results for: content related to: CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes

  1. You have free access to this content
    Molecular mechanism of stop codon recognition by eRF1: a wobble hypothesis for peptide anticodons

    FEBS Letters

    Volume 488, Issue 3, January 19, 2001, Pages: 105–109, Tomonari Muramatsu, Klaus Heckmann, Chifumi Kitanaka and Yoshiyuki Kuchino

    Version of Record online : 26 JAN 2001, DOI: 10.1016/S0014-5793(00)02391-7

  2. Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action

    Human Mutation

    Volume 37, Issue 10, October 2016, Pages: 1030–1041, Anne Thomas, Arijit Biswas, Johannes Dodt, Helen Philippou, Emma Hethershaw, Hans Juergen Ensikat, Vytautas Ivaskevicius and Johannes Oldenburg

    Version of Record online : 21 AUG 2016, DOI: 10.1002/humu.23041

  3. Molecular analysis of immunized Jr(a–) or Lan– patients and validation of a high-throughput genotyping assay to screen blood donors for Jr(a–) and Lan– phenotypes

    Transfusion

    Volume 54, Issue 7, July 2014, Pages: 1836–1846, Lonneke Haer-Wigman, Aïcha Ait Soussan, Peter Ligthart, Masja de Haas and C. Ellen van der Schoot

    Version of Record online : 24 JAN 2014, DOI: 10.1111/trf.12544

  4. You have free access to this content
    Angiogenic characteristics of blood outgrowth endothelial cells from patients with von Willebrand disease

    Journal of Thrombosis and Haemostasis

    Volume 13, Issue 10, October 2015, Pages: 1854–1866, D. J. Groeneveld, T. van Bekkum, R. J. Dirven, J.-W. Wang, J. Voorberg, P. H. Reitsma and J. Eikenboom

    Version of Record online : 21 SEP 2015, DOI: 10.1111/jth.13112

  5. Role of β-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

    Human Mutation

    Volume 25, Issue 3, March 2005, Pages: 285–292, Anna Caciotti, Maria Alice Donati, Avihu Boneh, Alessandra d'Azzo, Antonio Federico, Rossella Parini, Danielas Antuzzi, Tiziana Bardelli, Daniele Nosi, Virginia Kimonis, Enrico Zammarchi and Amelia Morrone

    Version of Record online : 15 FEB 2005, DOI: 10.1002/humu.20147

  6. Untersuchung von zwei Milchstraßenfeldern auf Veränderliche (124 neue Veränderliche)

    Astronomische Nachrichten

    Volume 232, Issue 4, 1928, Pages: 65–70, W. Baade

    Version of Record online : 24 MAR 2006, DOI: 10.1002/asna.19282320403

  7. The ABCB6 mutation p.Arg192Trp is a recessive mutation causing the Lan− blood type

    Vox Sanguinis

    Volume 104, Issue 2, February 2013, Pages: 159–165, C. Saison, V. Helias, T. Peyrard, L. Merad, J.-P. Cartron and L. Arnaud

    Version of Record online : 10 SEP 2012, DOI: 10.1111/j.1423-0410.2012.01650.x

  8. BOC is a modifier gene in holoprosencephaly

    Human Mutation

    Mingi Hong, Kshitij Srivastava, Sungjin Kim, Benjamin L. Allen, Daniel J. Leahy, Ping Hu, Erich Roessler, Robert S. Krauss and Maximilian Muenke

    Version of Record online : 21 JUL 2017, DOI: 10.1002/humu.23286

  9. The Gly571arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor

    Journal of Cellular Physiology

    Volume 182, Issue 1, January 2000, Pages: 127–133, Angela Greco, Riccardo Villa, Lisa Fusetti, Rosaria Orlandi and Marco A. Pierotti

    Version of Record online : 18 NOV 1999, DOI: 10.1002/(SICI)1097-4652(200001)182:1<127::AID-JCP14>3.0.CO;2-0

  10. Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation

    Clinical Genetics

    Volume 60, Issue 2, August 2001, Pages: 117–124, H Rueffert, D Olthoff, C Deutrich and UG Froster

    Version of Record online : 7 JUL 2008, DOI: 10.1034/j.1399-0004.2001.600205.x

  11. Ultrahigh-resolution structure of a BPTI mutant

    Acta Crystallographica Section D

    Volume 57, Issue 5, May 2001, Pages: 649–663, Anthony Addlagatta, Szymon Krzywda, Honorata Czapinska, Jacek Otlewski and Mariusz Jaskolski

    DOI: 10.1107/S0907444901003468

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    A function–structure model for NGF-activated TRK

    The EMBO Journal

    Volume 17, Issue 24, December 15, 1998, Pages: 7282–7293, Matthew E. Cunningham and Lloyd A. Greene

    Version of Record online : 15 DEC 1998, DOI: 10.1093/emboj/17.24.7282

  13. Über Peptidyl-Prolyl-cis/trans-Isomerasen und ihre Effektoren

    Angewandte Chemie

    Volume 106, Issue 14, 14. Juli 1994, Pages: 1479–1501, Prof. Dr. Gunter Fischer

    Version of Record online : 24 JAN 2006, DOI: 10.1002/ange.19941061404

  14. Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations

    British Journal of Dermatology

    Volume 171, Issue 3, September 2014, Pages: 675–678, S. Duchatelet, L. Guibbal, S. de Veer, S. Fraitag, P. Nitschké, M. Zarhrate, C. Bodemer and A. Hovnanian

    Version of Record online : 4 AUG 2014, DOI: 10.1111/bjd.12951

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    Constitutively active mutant gives novel insights into the mechanism of bitter taste receptor activation

    Journal of Neurochemistry

    Volume 122, Issue 3, August 2012, Pages: 537–544, Sai Prasad Pydi, Rajinder Pal Bhullar and Prashen Chelikani

    Version of Record online : 22 JUN 2012, DOI: 10.1111/j.1471-4159.2012.07808.x

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    Distinct contribution of Toxoplasma gondii rhomboid proteases 4 and 5 to micronemal protein protease 1 activity during invasion

    Molecular Microbiology

    Volume 97, Issue 2, July 2015, Pages: 244–262, George Rugarabamu, Jean-Baptiste Marq, Amandine Guérin, Maryse Lebrun and Dominique Soldati-Favre

    Version of Record online : 9 MAY 2015, DOI: 10.1111/mmi.13021

  17. Three missense mutations found in the KEL gene lead to Kmod or K0 red blood cell phenotypes

    Transfusion

    Volume 54, Issue 12, December 2014, Pages: 3216–3221, Antonella Matteocci, Tommaso Mancuso, Alessandra Moscetti, Angela Collaretti, Katiuscia Castagna, Cinzia Spaccino, Tyler Hutchinson, Paola Grammatico and Luca Pierelli

    Version of Record online : 20 JUL 2014, DOI: 10.1111/trf.12748

  18. CARD14 alterations in Tunisian patients with psoriasis and further characterization in European cohorts

    British Journal of Dermatology

    Volume 174, Issue 2, February 2016, Pages: 330–337, M. Ammar, C.T. Jordan, L. Cao, E. Lim, C. Bouchlaka Souissi, A. Jrad, I. Omrane, S. Kouidhi, I. Zaraa, H. Anbunathan, M. Mokni, N. Doss, E. Guttman-Yassky, A. B. El Gaaied, A. Menter and A.M. Bowcock

    Version of Record online : 17 NOV 2015, DOI: 10.1111/bjd.14158

  19. You have free access to this content
    Skeletal development in transgenic mice expressing a mutation at Gly574Ser of type II collagen

    Developmental Dynamics

    Volume 208, Issue 2, February 1997, Pages: 170–177, B. Kerry Maddox, Silvio Garofalo, Chad Smith, Douglas R. Keene and William A. Horton

    Version of Record online : 7 DEC 1998, DOI: 10.1002/(SICI)1097-0177(199702)208:2<170::AID-AJA4>3.0.CO;2-F

  20. 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