Human Mutation

Cover image for Human Mutation

January 2002

Volume 19, Issue 1

Pages 1–84

  1. Editors' Note

    1. Top of page
    2. Editors' Note
    3. Editorial
    4. Mutation Update
    5. Databases
    6. Research Articles
    7. Methods
    8. Special Article
    9. Commentary
    10. Erratum
    11. Mutations in Brief
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      Human Mutation: The official journal of the Human Genome Variation Society (HGVS) (page 1)

      Richard G.H. Cotton and Haig H. Kazazian Jr

      Article first published online: 12 DEC 2001 | DOI: 10.1002/humu.10037

  2. Editorial

    1. Top of page
    2. Editors' Note
    3. Editorial
    4. Mutation Update
    5. Databases
    6. Research Articles
    7. Methods
    8. Special Article
    9. Commentary
    10. Erratum
    11. Mutations in Brief
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  3. Mutation Update

    1. Top of page
    2. Editors' Note
    3. Editorial
    4. Mutation Update
    5. Databases
    6. Research Articles
    7. Methods
    8. Special Article
    9. Commentary
    10. Erratum
    11. Mutations in Brief
    1. You have free access to this content
      Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1) (pages 4–15)

      Carlos Cardoso, Richard J. Leventer, James J. Dowling, Heather L. Ward, June Chung, Kristin S. Petras, Jessica A. Roseberry, Ann M. Weiss, Soma Das, Christa Lese Martin, Daniela T. Pilz, William B. Dobyns and David H. Ledbetter

      Article first published online: 12 DEC 2001 | DOI: 10.1002/humu.10028

  4. Databases

    1. Top of page
    2. Editors' Note
    3. Editorial
    4. Mutation Update
    5. Databases
    6. Research Articles
    7. Methods
    8. Special Article
    9. Commentary
    10. Erratum
    11. Mutations in Brief
    1. Database for the mutations of the Finnish disease heritage (pages 16–22)

      Kati Sipilä and Pertti Aula

      Article first published online: 12 DEC 2001 | DOI: 10.1002/humu.10019

  5. Research Articles

    1. Top of page
    2. Editors' Note
    3. Editorial
    4. Mutation Update
    5. Databases
    6. Research Articles
    7. Methods
    8. Special Article
    9. Commentary
    10. Erratum
    11. Mutations in Brief
    1. Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidus (pages 23–29)

      Masashi Demura, Yoshiyu Takeda, Takashi Yoneda, Kenji Furukawa, Mikiya Usukura, Yuji Itoh and Hiroshi Mabuchi

      Article first published online: 12 DEC 2001 | DOI: 10.1002/humu.10011

    2. NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes (pages 30–38)

      Peter Bauer, Rupert Knoblich, Claudia Bauer, Ulrich Finckh, Antje Hufen, Julia Kropp, Silja Braun, Birgit Kustermann-Kuhn, Dörthe Schmidt, Klaus Harzer and Arndt Rolfs

      Article first published online: 12 DEC 2001 | DOI: 10.1002/humu.10016

    3. Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype (pages 39–48)

      Prateek A. Gupta, Elizabeth A. Putnam, Sonya G. Carmical, Ilkka Kaitila, Beat Steinmann, Anne Child, Cesare Danesino, Kay Metcalfe, Susan A. Berry, Emily Chen, Catherine Vincent Delorme, Meow-Keong Thong, Lesley C. Adès and Dianna M. Milewicz

      Article first published online: 12 DEC 2001 | DOI: 10.1002/humu.10017

    4. Mutations in the factor IX gene (F9) during the past 150 years have relative rates similar to ancient mutations (pages 49–57)

      Jinong Feng, Joni B. Drost, William A. Scaringe, Qiang Liu and Steve S. Sommer

      Article first published online: 12 DEC 2001 | DOI: 10.1002/humu.10018

  6. Methods

    1. Top of page
    2. Editors' Note
    3. Editorial
    4. Mutation Update
    5. Databases
    6. Research Articles
    7. Methods
    8. Special Article
    9. Commentary
    10. Erratum
    11. Mutations in Brief
    1. Quantification of single nucleotide polymorphisms: A novel method that combines primer extension assay and capillary electrophoresis (pages 58–68)

      Gábor Mátyás, Cecilia Giunta, Beat Steinmann, Johann Peter Hossle and Robert Hellwig

      Article first published online: 12 DEC 2001 | DOI: 10.1002/humu.10013

  7. Special Article

    1. Top of page
    2. Editors' Note
    3. Editorial
    4. Mutation Update
    5. Databases
    6. Research Articles
    7. Methods
    8. Special Article
    9. Commentary
    10. Erratum
    11. Mutations in Brief
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      The changing meanings of “mutation:” A contextualized study of public discourse (pages 69–75)

      Celeste M. Condit, Paul J. Achter, Ilon Lauer and Enid Sefcovic

      Article first published online: 12 DEC 2001 | DOI: 10.1002/humu.10023

  8. Commentary

    1. Top of page
    2. Editors' Note
    3. Editorial
    4. Mutation Update
    5. Databases
    6. Research Articles
    7. Methods
    8. Special Article
    9. Commentary
    10. Erratum
    11. Mutations in Brief
    1. You have free access to this content
      On the changing meanings of “mutation” (pages 76–78)

      Jeremy H. Marshall

      Article first published online: 12 DEC 2001 | DOI: 10.1002/humu.10021

  9. Erratum

    1. Top of page
    2. Editors' Note
    3. Editorial
    4. Mutation Update
    5. Databases
    6. Research Articles
    7. Methods
    8. Special Article
    9. Commentary
    10. Erratum
    11. Mutations in Brief
    1. You have free access to this content
      Improved detection of CFTR mutations in southern California Hispanic CF patients (page 79)

      Lee-Jun C. Wong, Jianjun Wang, Ying-Hua Zhang, Evelyn Hsu, Ruth A. Heim, C. Michael Bowman and Marlyn S. Woo

      Article first published online: 12 DEC 2001 | DOI: 10.1002/humu.10030

  10. Mutations in Brief

    1. Top of page
    2. Editors' Note
    3. Editorial
    4. Mutation Update
    5. Databases
    6. Research Articles
    7. Methods
    8. Special Article
    9. Commentary
    10. Erratum
    11. Mutations in Brief
    1. You have free access to this content
      Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients (page 80)

      Viera Kuhrová, Hana Francová, Petra Zapletalová, Tomáš Freiberger, Lenka Fajkusová, Eva Hrabincová, Romana Slováková and Libor Kozák

      Article first published online: 12 DEC 2001 | DOI: 10.1002/humu.9000

    2. You have free access to this content
      Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I (pages 80–81)

      Orly N. Elpeleg, Avraham Shaag, Elizabeth Holme, Ghaleb Zughayar, Suzi Ronen, Drora Fisher and Haggit Hurvitz

      Article first published online: 12 DEC 2001 | DOI: 10.1002/humu.9001

    3. You have free access to this content
      Mutation rate of MAP2K4/MKK4 in breast carcinoma (page 81)

      Gloria H. Su, Jason J. Song, Elizabeth A. Repasky, Mieke Schutte and Scott E. Kern

      Article first published online: 12 DEC 2001 | DOI: 10.1002/humu.9002

    4. You have free access to this content
      BRCA2 gene mutations in Greek patients with familial breast cancer (pages 81–82)

      Athanasios Armakolas, Angela Ladopoulou, Irene Konstantopoulou, B. Pararas, Ilias P. Gomatos, Agapi Kataki, Manoussos M. Konstadoulakis, George P. Stathopoulos, Christopher Markopoulos, Emmanouil Leandros, Ioannis Gogas, Drakoulis Yannoukakos and George Androulakis

      Article first published online: 12 DEC 2001 | DOI: 10.1002/humu.9003

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      Seven novel MLH1 and MSH2 germline mutations in hereditary nonpolyposis colorectal cancer (page 82)

      Stefan Krüger, Jens Plaschke, Steffen Pistorius, Birgit Jeske, Stephan Haas, Heike Krämer, Irene Hinterseher, Andrea Bier, Friedmar R. Kreuz, Franz Theissig, Hans D. Saeger and Hans K. Schackert

      Article first published online: 12 DEC 2001 | DOI: 10.1002/humu.9004

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      Molecular analysis in newborns from Texas affected with galactosemia (pages 82–83)

      Y.-P. Yang, N. Corley and J. Garcia-Heras

      Article first published online: 12 DEC 2001 | DOI: 10.1002/humu.9005

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    8. You have free access to this content
      Seven novel and four recurrent point mutations in the factor VIII (F8C) gene (page 84)

      Nadja Bogdanova, Beate Lemcke, Arseni Markoff, Hartmut Pollmann, Bernd Dworniczak, Antonin Eigel and Jürgen Horst

      Article first published online: 12 DEC 2001 | DOI: 10.1002/humu.9007

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