Human Mutation

Cover image for Human Mutation

June 2001

Volume 17, Issue 6

Pages 439–524

  1. Review Articles

    1. Top of page
    2. Review Articles
    3. Mutation Update
    4. Rapid Communication
    5. Research Article
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    1. You have free access to this content
      Denaturing high-performance liquid chromatography: A review (pages 439–474)

      Wenzhong Xiao and Peter J. Oefner

      Article first published online: 25 MAY 2001 | DOI: 10.1002/humu.1130

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  2. Mutation Update

    1. Top of page
    2. Review Articles
    3. Mutation Update
    4. Rapid Communication
    5. Research Article
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    1. Transthyretin mutations in hyperthyroxinemia and amyloid diseases (pages 493–503)

      Maria João Mascarenhas Saraiva

      Article first published online: 25 MAY 2001 | DOI: 10.1002/humu.1132

  3. Rapid Communication

    1. Top of page
    2. Review Articles
    3. Mutation Update
    4. Rapid Communication
    5. Research Article
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    1. Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies (pages 504–510)

      Eva Paloma, Amalia Martínez-Mir, Lluïsa Vilageliu, Roser Gonzàlez-Duarte and Susana Balcells

      Article first published online: 25 MAY 2001 | DOI: 10.1002/humu.1133

  4. Research Article

    1. Top of page
    2. Review Articles
    3. Mutation Update
    4. Rapid Communication
    5. Research Article
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    1. Frequency of recent retrotransposition events in the human factor IX gene (pages 511–519)

      Xuemin Li, William A. Scaringe, Kathleen A. Hill, Stacy Roberts, April Mengos, Diane Careri, Miguel Tezanos Pinto, Carol K. Kasper and Steve S. Sommer

      Article first published online: 25 MAY 2001 | DOI: 10.1002/humu.1134

  5. Mutations in Brief

    1. Top of page
    2. Review Articles
    3. Mutation Update
    4. Rapid Communication
    5. Research Article
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    1. You have free access to this content
      Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa (page 520)

      María Martinez-Gimeno, Miquel Maseras, Montserrat Baiget, Magdalena Beneito, Gillermo Antiñolo, Carmen Ayuso and Miguel Carballo

      Article first published online: 25 MAY 2001 | DOI: 10.1002/humu.1135

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      The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript (pages 520–521)

      Ana Vega, Berta Campos, Brigitte Bressac-de-Paillerets, Patricia M. Bond, Nicolas Janin, Fiona S. Douglas, Montserrat Domènech, Manel Baena, Carles Pericay, Carmen Alonso, Angel Carracedo, Montserrat Baiget and Orland Diez

      Article first published online: 25 MAY 2001 | DOI: 10.1002/humu.1136

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      Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer (page 521)

      Oana Caluseriu, Emanuela Lucci Cordisco, Alessandra Viel, Silvia Majore, Riccardo Nascimben, Salvatore Pucciarelli and Maurizio Genuardi

      Article first published online: 25 MAY 2001 | DOI: 10.1002/humu.1137

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      Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population (pages 521–522)

      Heinz Gabriel, Petra Kupsch, Jürgen Sudendey, Elke Winterhager, Klaus Jahnke and Jürgen Lautermann

      Article first published online: 25 MAY 2001 | DOI: 10.1002/humu.1138

    5. Novel mutations in the emerin gene in Israeli families (page 522)

      Yoram Nevo, Sarit Ahituv, Yuval Yaron, Merav Kedmi, Ruth Shomrat, Cyril Legum and Avi Orr-Urtreger

      Article first published online: 25 MAY 2001 | DOI: 10.1002/humu.1139

    6. You have free access to this content
    7. You have free access to this content
      Molecular analysis of phenylketonuria (PKU) in newborns from Texas (page 523)

      Y. Yang, M. Drummond-Borg and J. Garcia-Heras

      Article first published online: 25 MAY 2001 | DOI: 10.1002/humu.1141

  6. Mutation and Polymorphism Reports

    1. Top of page
    2. Review Articles
    3. Mutation Update
    4. Rapid Communication
    5. Research Article
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    1. Identification of an additional allelic variant (XLS) of the human serotonin transporter gene (SLC6A4): -1201Cins66 (page 524)

      S.J.W. Delbrück, K.U. Kidd and M.R. Hoehe

      Article first published online: 25 MAY 2001 | DOI: 10.1002/humu.1142

    2. First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy (page 524)

      Bernard Hoffmann, Hajo Schmidt-Traub, Andreas Perrot, Karl Josef Osterziel and Reinhard Geßner

      Article first published online: 25 MAY 2001 | DOI: 10.1002/humu.1143

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