Human Mutation

Cover image for Human Mutation

July 2003

Volume 22, Issue 1

Pages 1–106

  1. Mutation Update

    1. Top of page
    2. Mutation Update
    3. Research Articles
    4. Methods
    5. Mutations in Brief
  2. Research Articles

    1. Top of page
    2. Mutation Update
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency (pages 12–23)

      Rikke K.J. Olsen, Brage S. Andresen, Ernst Christensen, Peter Bross, Flemming Skovby and Niels Gregersen

      Version of Record online: 4 JUN 2003 | DOI: 10.1002/humu.10226

    2. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype–phenotype correlation in 38 classical citrullinemia patients (pages 24–34)

      Hong-Zhi Gao, Keiko Kobayashi, Ayako Tabata, Hideaki Tsuge, Mikio Iijima, Tomotsugu Yasuda, H. Serap Kalkanoglu, Ali Dursun, Aysegul Tokatli, Turgay Coskun, Friedrich K. Trefz, Daniela Skladal, Hanna Mandel, Joerg Seidel, Soichi Kodama, Seiko Shirane, Takafumi Ichida, Shigeru Makino, Makoto Yoshino, Jong-Hon Kang, Masashi Mizuguchi, Bruce A. Barshop, Shohei Fuchinoue, Sara Seneca, Susan Zeesman, Ina Knerr, Margarita Rodés, Pornswan Wasant, Ichiro Yoshida, Linda De Meirleir, Md. Abdul Jalil, Laila Begum, Masahisa Horiuchi, Nobuhiko Katunuma, Shiro Nakagawa and Takeyori Saheki

      Version of Record online: 4 JUN 2003 | DOI: 10.1002/humu.10230

    3. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis (pages 35–42)

      Julie D. Sharp, Ruth B. Wheeler, Keith A. Parker, R. Mark Gardiner, Ruth E. Williams and Sara E. Mole

      Version of Record online: 4 JUN 2003 | DOI: 10.1002/humu.10227

    4. Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rate (pages 43–50)

      Midori Mitui, Catarina Campbell, Gabriela Coutinho, Xia Sun, Chih-Hung Lai, Yvonne Thorstenson, Sergi Castellvi-Bel, Luis Fernandez, Eugenia Monros, Beatriz Tavares Costa Carvalho, Oscar Porras, Gumersindo Fontan and Richard A. Gatti

      Version of Record online: 12 JUN 2003 | DOI: 10.1002/humu.10232

    5. A phylogenetic approach to assessing the significance of missense mutations in disease genes (pages 51–58)

      M.F. Santibáñez Koref, R. Gangeswaran, I.P. Santibáñez Koref, N. Shanahan and J.M. Hancock

      Version of Record online: 4 JUN 2003 | DOI: 10.1002/humu.10235

    6. The molecular basis of glutamate formiminotransferase deficiency (pages 67–73)

      John F. Hilton, Karen E. Christensen, David Watkins, Benjamin A. Raby, Yannick Renaud, Susanna de la Luna, Xavier Estivill, Robert E. MacKenzie, Thomas J. Hudson and David S. Rosenblatt

      Version of Record online: 4 JUN 2003 | DOI: 10.1002/humu.10236

  3. Methods

    1. Top of page
    2. Mutation Update
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. Determination of SMN1 and SMN2 copy number using TaqMan™ technology (pages 74–78)

      Dirk Anhuf, Thomas Eggermann, Sabine Rudnik-Schöneborn and Klaus Zerres

      Version of Record online: 4 JUN 2003 | DOI: 10.1002/humu.10221

    2. Enhanced allele-specific PCR discrimination in SNP genotyping using 3′ locked nucleic acid (LNA) primers (pages 79–85)

      David Latorra, Krista Campbell, Andreas Wolter and J. Michael Hurley

      Version of Record online: 4 JUN 2003 | DOI: 10.1002/humu.10228

    3. A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1 (pages 86–91)

      M.C. Southey, A. Tesoriero, M.A. Young, A. J. Holloway, M.A. Jenkins, J. Whitty, S. Misfud, kConFab, S.A. McLachlan, D.J. Venter and J.E. Armes

      Version of Record online: 4 JUN 2003 | DOI: 10.1002/humu.10224

    4. Epigenetic detection of human chromosome 14 uniparental disomy (pages 92–97)

      S.K. Murphy, A.A. Wylie, K.J. Coveler, P.D. Cotter, P.R. Papenhausen, V.R. Sutton, L.G. Shaffer and R.L. Jirtle

      Version of Record online: 4 JUN 2003 | DOI: 10.1002/humu.10237

    5. Denaturing HPLC analysis of DNA deletions and insertions (pages 98–102)

      Laura Cremonesi, Stefania Stenirri, Isabella Fermo, Rita Paroni, Maurizio Ferrari, Mario Cazzola and Paolo Arosio

      Version of Record online: 4 JUN 2003 | DOI: 10.1002/humu.10234

  4. Mutations in Brief

    1. Top of page
    2. Mutation Update
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. You have free access to this content
      Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307S (page 103)

      Roser Urreizti, Susana Balcells, Marga Rodés, Laura Vilarinho, Antonio Baldellou, María Luz Couce, Carmen Muñoz, Jaume Campistol, Xavier Pintó, María Antonia Vilaseca and Daniel Grinberg

      Version of Record online: 12 JUN 2003 | DOI: 10.1002/humu.9153

    2. You have free access to this content
      Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method (pages 103–104)

      Wera Hofmann, Heike Görgens, Anika John, Denise Horn, Christine Hüttner, Norbert Arnold, Siegfried Scherneck and Hans K. Schackert

      Version of Record online: 12 JUN 2003 | DOI: 10.1002/humu.9154

    3. You have free access to this content
      Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia (page 104)

      Alessandra Tessa, Sergio Salvi, Carlo Casali, Livia Garavelli, M. Cristina Digilio, M. Teresa Dotti, Silvia Di Giandomenico, Manuela Valoppi, Gaetano S. Grieco, Giovanna Comanducci, Giacomo Bianchini, Daniela Fortini, Antonio Federico, Aldo Giannotti and Filippo M. Santorelli

      Version of Record online: 12 JUN 2003 | DOI: 10.1002/humu.9155

    4. You have free access to this content
      The analysis of BRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relatives (page 104)

      Zhen Hu, Jiong Wu, Can-Hui Liu, Jing-Song Lu, Jian-Ming Luo, Qi-Xia Han, Zhen-Zhou Shen and Zhi-Ming Shao

      Version of Record online: 12 JUN 2003 | DOI: 10.1002/humu.9156

    5. You have free access to this content
      Prion susceptibility and protective alleles exhibit marked geographic differences (pages 104–105)

      Marta Soldevila, Francesc Calafell, Aida M. Andrés, Jordi Yagüe, Agnar Helgason, Kári Stefánsson and Jaume Bertranpetit

      Version of Record online: 12 JUN 2003 | DOI: 10.1002/humu.9157

    6. You have free access to this content
      Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland (page 105)

      Virginie Scotet, David E. Barton, James B.G. Watson, Marie-Pierre Audrézet, Trudi McDevitt, Shirley McQuaid, Cathy Shortt, Marc De Braekeleer, Claude Férec and Cédric Le Maréchal

      Version of Record online: 12 JUN 2003 | DOI: 10.1002/humu.9158

    7. You have free access to this content
      Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene (pages 105–106)

      M. Spentchian, Y. Merrien, M. Herasse, Z. Dobbie, D. Gläser, S. E. Holder, S-A. Ivarsson, D. Kostiner, S. Mansour, A. Norman, J. Roth, F. Stipoljev, J-L. Taillemite, J. J. van der Smagt, J-L. Serre, B. Simon-Bouy, A. Taillandier and E. Mornet

      Version of Record online: 12 JUN 2003 | DOI: 10.1002/humu.9159

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