Human Mutation

Cover image for Human Mutation

November 2004

Volume 24, Issue 5

Pages 355–441

  1. Mutation Update

    1. Top of page
    2. Mutation Update
    3. Research Articles
    4. Methods
    5. Erratum
    6. Mutations in Brief
    1. CRB1 mutation spectrum in inherited retinal dystrophies (pages 355–369)

      Anneke I. den Hollander, Jason Davis, Saskia D. van der Velde-Visser, Marijke N. Zonneveld, Chiara O. Pierrottet, Robert K. Koenekoop, Ulrich Kellner, L. Ingeborgh van den Born, John R. Heckenlively, Carel B. Hoyng, Penny A. Handford, Ronald Roepman and Frans P.M. Cremers

      Article first published online: 30 SEP 2004 | DOI: 10.1002/humu.20093

  2. Research Articles

    1. Top of page
    2. Mutation Update
    3. Research Articles
    4. Methods
    5. Erratum
    6. Mutations in Brief
    1. Familial adenomatous polyposis: Aberrant splicing due to missense or silent mutations in the APC gene (pages 370–380)

      Stefan Aretz, Siegfried Uhlhaas, Yuli Sun, Constanze Pagenstecher, Elisabeth Mangold, Reiner Caspari, Gabriela Möslein, Karsten Schulmann, Peter Propping and Waltraut Friedl

      Article first published online: 30 SEP 2004 | DOI: 10.1002/humu.20087

    2. Mutation analysis of NR0B2 among 1545 Danish men identifies a novel c.278G>A (p.G93D) variant with reduced functional activity (pages 381–387)

      Søren M. Echwald, Kirstine L. Andersen, Thorkild I.A. Sørensen, Lesli H. Larsen, Teis Andersen, Naoko Tonooka, Hideaki Tomura, Jun Takeda and Oluf Pedersen

      Article first published online: 30 SEP 2004 | DOI: 10.1002/humu.20090

    3. Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations (pages 388–399)

      Angel L. Pey, Belén Pérez, Lourdes R. Desviat, Ma Angeles Martínez, Cristina Aguado, Heidi Erlandsen, Alejandra Gámez, Raymond C. Stevens, Matthías Thórólfsson, Magdalena Ugarte and Aurora Martínez

      Article first published online: 30 SEP 2004 | DOI: 10.1002/humu.20097

    4. Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14 (pages 400–407)

      Daniela Perotti, Giovanna De Vecchi, Maria A. Testi, Elena Lualdi, Piergiorgio Modena, Patrizia Mondini, Fernando Ravagnani, Paola Collini, Francesca Di Renzo, Filippo Spreafico, Monica Terenziani, Gabriella Sozzi, Franca Fossati-Bellani and Paolo Radice

      Article first published online: 30 SEP 2004 | DOI: 10.1002/humu.20096

    5. A paradigm for single nucleotide polymorphism analysis: The case of the acetylcholinesterase gene (pages 408–416)

      Yehudit Hasin, Nili Avidan, Dani Bercovich, Amos Korczyn, Israel Silman, Jacques S. Beckmann and Joel L. Sussman

      Article first published online: 30 SEP 2004 | DOI: 10.1002/humu.20106

  3. Methods

    1. Top of page
    2. Mutation Update
    3. Research Articles
    4. Methods
    5. Erratum
    6. Mutations in Brief
    1. Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations (pages 417–427)

      Olivier Clermont, Philippe Burlet, Paule Benit, Dominique Chanterau, Pascale Saugier-Veber, Arnold Munnich and Veronica Cusin

      Article first published online: 30 SEP 2004 | DOI: 10.1002/humu.20092

    2. Polymorphism analysis within the HLA-A locus by universal oligonucleotide array (pages 428–434)

      Clarissa Consolandi, Andrea Frosini, Cinzia Pera, Gian Battista Ferrara, Roberta Bordoni, Bianca Castiglioni, Ermanno Rizzi, Alessandra Mezzelani, Luigi Rossi Bernardi, Gianluca De Bellis and Cristina Battaglia

      Article first published online: 30 SEP 2004 | DOI: 10.1002/humu.20098

  4. Erratum

    1. Top of page
    2. Mutation Update
    3. Research Articles
    4. Methods
    5. Erratum
    6. Mutations in Brief
    1. You have free access to this content
      Genotype–phenotype correlation in von Hippel-Lindau families with renal lesions (pages 435–436)

      Catherine Gallou, Dominique Chauveau, Stéphane Richard, Dominique Joly, Sophie Giraud, Sylviane Olschwang, Natacha Martin, Céline Saquet, Yves Chrétien, Arnaud Méjean, Jean-Michel Correas, Gérard Benoît, Pierre Colombeau, Jean-Pierre Grünfeld, Claudine Junien and Christophe Béroud

      Article first published online: 30 SEP 2004 | DOI: 10.1002/humu.20109

    2. You have free access to this content
      Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients (page 437)

      Heini Hartikka, Kaija Kuurila, Jarmo Körkkö, Ilkka Kaitila, Reidar Grénman, Seppo Pynnönen, James C. Hyland and Leena Ala-Kokko

      Article first published online: 30 SEP 2004 | DOI: 10.1002/humu.20108

  5. Mutations in Brief

    1. Top of page
    2. Mutation Update
    3. Research Articles
    4. Methods
    5. Erratum
    6. Mutations in Brief
    1. You have free access to this content
      Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosis (page 438)

      Zhenghua Zhang, Zhenmin Niu, Wentao Yuan, Weida Liu, Leihong Xiang, Jing Zhang, Xun Chu, Jingjun Zhao, Faxing Jiang, Bao Chai, Fan Cui, Ying Wang, Kaiyue Zhang, Yi Wang, Shijie Xu, Longqing Xia, Jun Gu, Shoumin Zhang, Xuemei Meng, Shuxia Wang, Shunqiang Gao, Min Fan, Lei Nie, Zhizhong Zheng and Wei Huang

      Article first published online: 30 SEP 2004 | DOI: 10.1002/humu.9283

    2. You have free access to this content
      ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE) (pages 438–439)

      Dealba Gheduzzi, Rita Guidetti, Claudia Anzivino, Patrizia Tarugi, Enza Di Leo, Daniela Quaglino and Ivonne Pasquali Ronchetti

      Article first published online: 30 SEP 2004 | DOI: 10.1002/humu.9284

    3. You have free access to this content
      Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome (page 439)

      Alan F. Wright, Adam C. Reddick, Sharon B. Schwartz, Julie S. Ferguson, Tomas S. Aleman, Ulrich Kellner, Bernhard Jurklies, Andreas Schuster, Eberhart Zrenner, Bernd Wissinger, Alan Lennon, Xinhua Shu, Artur V. Cideciyan, Edwin M. Stone, Samuel G. Jacobson and Anand Swaroop

      Article first published online: 30 SEP 2004 | DOI: 10.1002/humu.9285

    4. You have free access to this content
      Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia (pages 439–440)

      Akihiko Mabuchi, Nobuhiko Haga, Koichi Maeda, Eiji Nakashima, Noriyo Manabe, Hisatada Hiraoka, Hiroshi Kitoh, Rika Kosaki, Gen Nishimura, Hirofumi Ohashi and Shiro Ikegawa

      Article first published online: 30 SEP 2004 | DOI: 10.1002/humu.9286

    5. You have free access to this content
      A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease (page 440)

      Enza Di Leo, Francesca Panico, Patrizia Tarugi, Carla Battisti, Antonio Federico and Sebastiano Calandra

      Article first published online: 30 SEP 2004 | DOI: 10.1002/humu.9287

    6. You have free access to this content
      Homeologous recombination between AluSx-sequences as a cause of hemophilia (page 440)

      Liliana C. Rossetti, Anne Goodeve, Irene B. Larripa and Carlos D. De Brasi

      Article first published online: 30 SEP 2004 | DOI: 10.1002/humu.9288

    7. You have free access to this content
      Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification of thirteen novel alleles (page 441)

      Maria Savino, Maria d'Apolito, Vincenza Formica, Filomena Baorda, Francesca Mari, Alessandra Renieri, Enrico Carabba, Enrico Tarantino, Elena Andreucci, Serena Belli, Lorenzo Lo Muzio, Bruno Dallapiccola, Leopoldo Zelante and Anna Savoia

      Article first published online: 30 SEP 2004 | DOI: 10.1002/humu.9289

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