Human Mutation

Cover image for Human Mutation

June 2006

Volume 27, Issue 6

Pages 505–601

  1. Mutation Updates

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Erratum
    6. Mutations in Brief
    1. Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1 (pages 505–512)

      P. K. Ilja Boor, Koen de Groot, Vlatka Mejaski-Bosnjak, Christiana Brenner, Marjo S. van der Knaap, Gert C. Scheper and Jan C. Pronk

      Article first published online: 1 MAY 2006 | DOI: 10.1002/humu.20332

  2. Research Articles

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Erratum
    6. Mutations in Brief
    1. Pharmacological rescue of carnitine transport in primary carnitine deficiency (pages 513–523)

      Cristina Amat di San Filippo, Marzia Pasquali and Nicola Longo

      Article first published online: 1 MAY 2006 | DOI: 10.1002/humu.20314

    2. A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS (pages 524–531)

      Jonas Denecke, Thomas Brune, Tobias Feldhaus, Horst Robenek, Christian Kranz, Richard J. Auchus, Anil K. Agarwal and Thorsten Marquardt

      Article first published online: 2 MAY 2006 | DOI: 10.1002/humu.20315

    3. The Cathepsin D rs17571 polymorphism: effects on CSF tau concentrations in Alzheimer disease (pages 532–537)

      Matthias Riemenschneider, Kaj Blennow, Stefan Wagenpfeil, Niels Andreasen, Jonathan A. Prince, Simon M. Laws, Hans Förstl and Alexander Kurz

      Article first published online: 1 MAY 2006 | DOI: 10.1002/humu.20326

    4. The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer (pages 538–544)

      Denise L. Stredrick, Montserrat Garcia-Closas, Marbin A. Pineda, Parveen Bhatti, Bruce H. Alexander, Michele M. Doody, Jolanta Lissowska, Beata Peplonska, Louise A. Brinton, Stephen J. Chanock, Jeffery P. Struewing and Alice J. Sigurdson

      Article first published online: 1 MAY 2006 | DOI: 10.1002/humu.20323

    5. Genome-wide identification of pseudogenes capable of disease-causing gene conversion (pages 545–552)

      Jared M. Bischof, Annie P. Chiang, Todd E. Scheetz, Edwin M. Stone, Thomas L. Casavant, Val C. Sheffield and Terry A. Braun

      Article first published online: 2 MAY 2006 | DOI: 10.1002/humu.20335

    6. A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3 (pages 553–557)

      Sandrine Boutboul, Graeme C.M. Black, John E. Moore, Janet Sinton, Maurice Menasche, Francis L. Munier, Laurent Laroche, Marc Abitbol and Daniel F. Schorderet

      Article first published online: 1 MAY 2006 | DOI: 10.1002/humu.20331

    7. The spectrum of WRN mutations in Werner syndrome patients (pages 558–567)

      Shurong Huang, Lin Lee, Nancy B. Hanson, Catherine Lenaerts, Holger Hoehn, Martin Poot, Craig D. Rubin, Da-Fu Chen, Chih-Chao Yang, Heike Juch, Thomas Dorn, Roland Spiegel, Elif Arioglu Oral, Mohammed Abid, Carla Battisti, Emanuela Lucci-Cordisco, Giovanni Neri, Erin H. Steed, Alexa Kidd, William Isley, David Showalter, Janet L. Vittone, Alexander Konstantinow, Johannes Ring, Peter Meyer, Sharon L. Wenger, Axel von Herbay, Uwe Wollina, Markus Schuelke, Carin R. Huizenga, Dru F. Leistritz, George M. Martin, I. Saira Mian and Junko Oshima

      Article first published online: 3 MAY 2006 | DOI: 10.1002/humu.20337

    8. Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa (pages 568–574)

      Andrew J. Lotery, Dominique Baas, Caroline Ridley, Richard P.O. Jones, Caroline C.W. Klaver, Edwin Stone, Tomoyuki Nakamura, Andrew Luff, Helen Griffiths, Tao Wang, Arthur A.B. Bergen and Dorothy Trump

      Article first published online: 1 MAY 2006 | DOI: 10.1002/humu.20344

    9. m.6267G>A: a recurrent mutation in the human mitochondrial DNA that reduces cytochrome c oxidase activity and is associated with tumors (pages 575–582)

      M. Esther Gallardo, Raquel Moreno-Loshuertos, Celia López, Mercedes Casqueiro, Javier Silva, Felix Bonilla, Santiago Rodríguez de Córdoba and José Antonio Enríquez

      Article first published online: 2 MAY 2006 | DOI: 10.1002/humu.20338

  3. Methods

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Erratum
    6. Mutations in Brief
    1. GENOMIZER: an integrated analysis system for genome-wide association data (pages 583–588)

      Andre Franke, Andreas Wollstein, Markus Teuber, Michael Wittig, Tim Lu, Katrin Hoffmann, Peter Nürnberg, Michael Krawczak, Stefan Schreiber and Jochen Hampe

      Article first published online: 1 MAY 2006 | DOI: 10.1002/humu.20306

    2. Comparisons of PCR-based genome amplification systems using CpG island microarrays (pages 589–596)

      Brian L. Pike, Susan Groshen, Ya-Hsuan Hsu, Ruty Mehrian Shai, Xiaoming Wang, Nicholas Holtan, Bernard W. Futscher and Joseph G. Hacia

      Article first published online: 1 MAY 2006 | DOI: 10.1002/humu.20329

  4. Erratum

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Erratum
    6. Mutations in Brief
    1. You have free access to this content
      Determination of genomic copy number with quantitative microsphere hybridization (page 597)

      Heather L. Newkirk, Peter K. Rogan, Mauricio Miralles and Joan H.M. Knoll

      Article first published online: 16 MAY 2006 | DOI: 10.1002/humu.20372

  5. Mutations in Brief

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Erratum
    6. Mutations in Brief
    1. You have free access to this content
      Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients (page 598)

      Gaëtan Lesca, Nelly Burnichon, Grégory Raux, Mario Tosi, Stéphane Pinson, Marie-Jeanne Marion, Emmanuel Babin, Brigitte Gilbert-Dussardier, Sophie Rivière, Cyril Goizet, Laurence Faivre, Henri Plauchu, Thierry Frébourg, Alain Calender and Sophie Giraud

      Article first published online: 16 MAY 2006 | DOI: 10.1002/humu.9421

    2. You have free access to this content
      The Cypriot and Iranian National Mutation Frequency Databases (pages 598–599)

      Marina Kleanthous, Philippos C. Patsalis, Anthi Drousiotou, Mehdi Motazacker, Kyproula Christodoulou, Marios Cariolou, Erol Baysal, Kimia Khrizi, Babak Moghimi, Farzin Pourfarzad, Sjozef van Baal, Constantinos Deltas, Hossein Najmabadi and George P. Patrinos

      Article first published online: 16 MAY 2006 | DOI: 10.1002/humu.9422

    3. You have free access to this content
      Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta (page 599)

      Kwang-Soo Lee, Hae-Ryong Song, Tae-Joon Cho, Hyon J. Kim, Tae-Mi Lee, Hyun-Seok Jin, Hyun-Young Park, Seongman Kang, Sung-Chul Jung and Soo Kyung Koo

      Article first published online: 16 MAY 2006 | DOI: 10.1002/humu.9423

    4. You have free access to this content
      Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding (pages 599–600)

      Katrin Wenzel, Miriam Carl, Andreas Perrot, Joanna Zabojszcza, Maziar Assadi, Martin Ebeling, Christian Geier, Peter N. Robinson, Wolfram Kress, Karl-Josef Osterziel and Simone Spuler

      Article first published online: 16 MAY 2006 | DOI: 10.1002/humu.9424

    5. You have free access to this content
      Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene (page 600)

      Véronique Picard, Ulrike Nowak-Göttl, Christine Biron-Andreani, Marc Fouassier, Corinne Frere, Michèle Goualt-Heilman, Emmanuel de Maistre, Sandra Regina, Lucia Rugeri, Catherine Ternisien, Catherine Trichet, Christine Vergnes, Martine Aiach and Martine Alhenc-Gelas

      Article first published online: 16 MAY 2006 | DOI: 10.1002/humu.9425

    6. You have free access to this content
      Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL (pages 600–601)

      S. Lucchiari, S. Pagliarani, S. Salani, M. Filocamo, M. Di Rocco, D. Melis, C. Rodolico, O. Musumeci, A. Toscano, N. Bresolin and G.P. Comi

      Article first published online: 16 MAY 2006 | DOI: 10.1002/humu.9426

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