Human Mutation

Cover image for Human Mutation

1992

Volume 1, Issue 6

Pages fmi–fmi, 445–515

  1. Masthead

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

      Article first published online: 31 MAY 2005 | DOI: 10.1002/humu.1380010601

  2. Mutation Update

    1. Top of page
    2. Masthead
    3. Mutation Update
    4. Research Articles
    5. Mutation in Briefs
    6. Announcement
    1. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia (pages 445–466)

      Helen H. Hobbs, Michael S. Brown and Joseph L. Goldstein

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010602

  3. Research Articles

    1. Top of page
    2. Masthead
    3. Mutation Update
    4. Research Articles
    5. Mutation in Briefs
    6. Announcement
    1. Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients (pages 467–473)

      Hiroki Nagase, Yasuo Miyoshi, Akira Horii, Takahisa Aoki, Gloria M. Petersen, Bert Vogelstein, Eamonn Maher, Michio Ogawa, Masakazu Maruyama, Joji Utsunomiya, Shozo Baba and Yusuke Nakamura

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010603

    2. Molecular analysis of neurofibromatosis type 1 mutations (pages 474–477)

      Xu Weiming, Qi Yu, Liu Lizhi, Margaret Ponder, Margaret Wallace, Xu Gangfeng and Bruce Ponder

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010604

    3. Linkage studies and mutation analysis of the PDEB gene in 23 families with leber congenital amaurosis (pages 478–485)

      Olaf Riess, Bernhard Weber, Anne Noeremolle, Rafig A. Shaikh, Michael R. Hayden and Maria A. Musarella

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010605

    4. An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease (pages 486–490)

      Shirah Shore, Jerzy Tomczak, Eugene E. Grebner and Rachel Myerowitz

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010606

    5. Two novel mutations responsible for hereditary type I protein C deficiency: Characterization by denaturing gradient gel electrophoresis (pages 491–500)

      S. Gandrille, M. Vidaud, M. Aiach, M. Alhenc-Gelas, A. M. Fischer, M. Gouault-Heilman, P. Toulon, J. N. Fiessinger and M. Goossens

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010607

  4. Mutation in Briefs

    1. Top of page
    2. Masthead
    3. Mutation Update
    4. Research Articles
    5. Mutation in Briefs
    6. Announcement
    1. Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome (pages 501–502)

      Milan Macek Jr., Ada Hamosh, Sandra Kiesewetter, Iain McIntosh, Beryl J. Rosenstein and Garry R. Cutting

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010608

    2. ΔF508 cystic fibrosis mutation appears very infrequently in the Greek-Cypriot community of Cyprus (pages 503–505)

      C. D. Constantinou-Deltas, Christina Georgiou, Panos Ioannou, Michael Angastiniotis and Elena Aristodemou

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010609

    3. Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis (pages 506–508)

      Sif Jonsdottir, Carol Diamond, Barbara Levinson, Sigmundur Magnusson, Olafur Jensson and Jane Gitschier

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010610

  5. Announcement

    1. Top of page
    2. Masthead
    3. Mutation Update
    4. Research Articles
    5. Mutation in Briefs
    6. Announcement
    1. Announcement (page 515)

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010611

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