Human Mutation

Cover image for Human Mutation

1995

Volume 5, Issue 3

Pages fmi–fmi, 191–278

  1. Masthead

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    1. Masthead (page fmi)

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050301

  2. Mutation Updates

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    1. Transthyretin mutations in health and disease (pages 191–196)

      Maria João and Mascarenhas Saraiva

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050302

  3. Research Articles

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    1. Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients (pages 197–204)

      Eileen Boye, Frances Flinter, Jing Zhou, Karl Tryggvason, Martin Bobrow and Ann Harris

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050303

    2. Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: Identification of three novel alleles (pages 205–209)

      C. Verlingue, N. I. Kapranov, B. Mercier, E. K. Ginter, N. V. Petrova, M. P. Audrezet and C. Férec

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050304

    3. Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients (pages 210–220)

      Katrin Will, Thilo Dörk, Manfred Stuhrmann, Horst Von Der Hardt, Helmut Ellemunter, Burkhard Tümmler and Jörg Schmidtke

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050305

    4. Homozygous intragenic deletion in the WT1 gene in a sporadic Wilms' tumour associated with high levels of expression of a truncated transcript (pages 221–227)

      Elizabeth M. Algar, Mark T. Kenney, Lisa A. Simms, Shirley I. Smith, Yoshiki Kida and Peter J. Smith

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050306

    5. Homozygous tandem duplication within the gene encoding the β-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa (pages 228–234)

      Mònica Bayés, Mara Giordano, Susana Balcells, Daniel Grinberg, Llusïsa Vilageliu, Immaculada Martínez, Carmen Ayuso, Javier Benítez, María A. Ramos-Arroyo, Pilar Chivelet, Teresa Solans, Diana Valverde, Serge Amselem, Michel Goossens, Montserrat Baiget, Roser Gonzàlez-Duarte and Claude Besmond

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050307

    6. Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis (pages 235–242)

      Alexander L. J. Kneppers, Piëtte P. Deutz-Terlouw, Johan T. Den Dunnen, Gert Jan B. Van and Egbert Bakker

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050308

    7. Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5′ splice site (pages 243–250)

      Ines Santisteban, Francisco X. Arredondo-Vega, Susan Kelly, Marianne Debre, Alain Fischer, Jean Louis Pérignon, Bettina Hilman, Jane Eldahr, David H. Dreyfus, Erwin W. Gelfand, P. Lynne Howell and Michael S. Hershfield

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050309

    8. Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1) (pages 251–259)

      Nicholas J. Lench and Gerald B. Winter

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050310

  4. Methods

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    1. Rapid DNA haplotyping using a multiplex heteroduplex approach: Application to duchenne muscular dystrophy carrier testing (pages 263–268)

      Thomas W. Prior, Gail D. Wenger, Audrey C. Papp, Pamela J. Snyder, Mary S. Sedra, Claire Bartolo, Jay W. Moore and W. Edward Highsmith

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050312

  5. Mutation in Briefs

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    1. Novel (cys152>arg) missense mutation in an Arab patient with Canavan disease (pages 269–271)

      Rajinder Kaul, Guang P. Gao, Kimberlee Michals, Donald T. Whelan, Simon Levin and Reuben Matalon

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050313

    2. Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome (pages 272–274)

      Peining Li, Paula Huffman and Jerry N. Thompson

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050314

    3. Two novel β-thalassemia alleles: Poly A signal (AATAAA[RIGHTWARDS ARROW]AAAA) and −92 C[RIGHTWARDS ARROW]T (pages 275–276)

      Michelle L. Kimberland, Corinne D. Boehm and Jr. Haig H. Kazazian

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050315

    4. Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease (pages 277–278)

      Kirsten M. Madsen, Lis Hasholt, Sven Asger S∅rensen, Maria Lagerström Fermér and Niklas Dahl

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050316

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