Human Mutation

Cover image for Human Mutation

October 2003

Volume 22, Issue 4

Pages 261–341

  1. Review

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

    1. Top of page
    2. Review
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease (pages 275–287)

      Kim Cryns, Theru A. Sivakumaran, Jody M.W. Van den Ouweland, Ronald J.E. Pennings, Cor W.R.J. Cremers, Kris Flothmann, Terry-Lynn Young, Richard J.H. Smith, Marci M. Lesperance and Guy Van Camp

      Version of Record online: 26 AUG 2003 | DOI: 10.1002/humu.10258

  3. Research Articles

    1. Top of page
    2. Review
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. MLYCD mutation analysis: Evidence for protein mistargeting as a cause of MLYCD deficiency (pages 288–300)

      P.J. Wightman, R. Santer, A. Ribes, F. Dougherty, N. McGill, D.R. Thorburn and D.R. FitzPatrick

      Version of Record online: 22 AUG 2003 | DOI: 10.1002/humu.10264

    2. Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects (pages 301–312)

      Orland Díez, Ana Osorio, Mercedes Durán, José Ignacio Martinez-Ferrandis, Miguel de la Hoya, Raquel Salazar, Ana Vega, Berta Campos, Raquel Rodríguez-López, Eladio Velasco, Javier Chaves, Eduardo Díaz-Rubio, Juan Jesús Cruz, María Torres, Eva Esteban, Andrés Cervantes, Carmen Alonso, Juan Manuel San Román, Rogelio González-Sarmiento, Cristina Miner, Angel Carracedo, María Eugenia Armengod, Trinidad Caldés, Javier Benítez and Montserrat Baiget

      Version of Record online: 21 AUG 2003 | DOI: 10.1002/humu.10260

    3. Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of PTC1-like domains in NPC1 (pages 313–325)

      Walter D. Park, John F. O'Brien, Patrick A. Lundquist, Daniel L. Kraft, Cate Walsh Vockley, Pamela S. Karnes, Marc C. Patterson and Karen Snow

      Version of Record online: 26 AUG 2003 | DOI: 10.1002/humu.10255

  4. Methods

    1. Top of page
    2. Review
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. Rapid detection of β-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC (pages 326–336)

      Yi-Ning Su, Chien-Nan Lee, Chia-Cheng Hung, Chi-An Chen, Wen-Fang Cheng, Po-Nien Tsao, Chia-Li Yu and Fon-Jou Hsieh

      Version of Record online: 26 AUG 2003 | DOI: 10.1002/humu.10265

  5. Mutations in Brief

    1. Top of page
    2. Review
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. You have free access to this content
      RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain (page 337)

      Berta Campos, Orland Díez, Montserrat Domènech, Manel Baena, Judith Balmaña, Judit Sanz, Amaya Ramírez, Carmen Alonso and Montserrat Baiget

      Version of Record online: 26 AUG 2003 | DOI: 10.1002/humu.9176

    2. You have free access to this content
      Mutational analysis of the AGL gene: Five novel mutations in GSD III patients (page 337)

      S. Lucchiari, M.A. Donati, D. Melis, M. Filocamo, R. Parini, N. Bresolin and G.P. Comi

      Version of Record online: 26 AUG 2003 | DOI: 10.1002/humu.9177

    3. You have free access to this content
      Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica (pages 337–338)

      Sébastien Küry, Monia Kharfi, Ridha Kamoun, Alain Taïeb, Eric Mallet, Jean-Jacques Baudon, Catherine Glastre, Bruno Michel, Francis Sebag, David Brooks, Volker Schuster, Catherine Scoul, Brigitte Dréno, Stéphane Bézieau and Jean-Paul Moisan

      Version of Record online: 26 AUG 2003 | DOI: 10.1002/humu.9178

    4. You have free access to this content
      Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young (page 338)

      Vilma Mantovani, Silvana Salardi, Vincenzo Cerreta, Daniela Bastia, Marinella Cenci, Luca Ragni, Stefano Zucchini, Raffaele Parente and Alessandro Cicognani

      Version of Record online: 26 AUG 2003 | DOI: 10.1002/humu.9179

    5. You have free access to this content
      Spectrum of FANCA mutations in Italian Fanconi anemia patients: Identification of six novel alleles and phenotypic characterization of the S858R variant (pages 338–339)

      Maria Savino, Adriana Borriello, Maria d'Apolito, Maria Criscuolo, Maria Del Vecchio, Anna Monica Bianco, Michele Di Perna, Rita Calzone, Bruno Nobili, Adriana Zatterale, Leopoldo Zelante, Hans Joenje, Fulvio Della Ragione and Anna Savoia

      Version of Record online: 26 AUG 2003 | DOI: 10.1002/humu.9180

    6. You have free access to this content
      Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations (page 339)

      Velamakanni Saroj Kiran, Chitra Kannabiran, Kalyana Chakravarthi, Geeta K. Vemuganti and Santosh G. Honavar

      Version of Record online: 26 AUG 2003 | DOI: 10.1002/humu.9181

    7. You have free access to this content
      The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever (pages 339–340)

      Dimitri Tchernitchko, Marie Legendre, Cécile Cazeneuve, Andrée Delahaye, Florence Niel and Serge Amselem

      Version of Record online: 26 AUG 2003 | DOI: 10.1002/humu.9182

    8. You have free access to this content
      CFTR genotypes in patients with normal or borderline sweat chloride levels (page 340)

      Delphine Feldmann, Remy Couderc, Marie-Pierre Audrezet, Claude Ferec, Thierry Bienvenu, Marie Desgeorges, Mireille Claustres, Hervé Mittre, Martine Blayau, Dominique Bozon, Marie-Claire Malinge, Nicole Monnier, Jean-Paul Bonnefont, Albert Iron, Eric Bieth, Viviane Dumur, Christine Clavel, Cécile Cazeneuve and Emmanuelle Girodon

      Version of Record online: 26 AUG 2003 | DOI: 10.1002/humu.9183

    9. You have free access to this content
    10. You have free access to this content
      Erratum: Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients (page 341)

      Paola Origone, Carlo Bellini, Debora Sambarino, Barbara Banelli, Guido Morcaldi, Carmen La Rosa, Franco Stanzial, Claudio Castellan, Domenico A. Coviello, Cecilia Garrè and Eugenio Bonioli

      Version of Record online: 26 AUG 2003 | DOI: 10.1002/humu.9185

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