Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

August 2000

Volume 16, Issue 2

Pages 97–181

  1. Editorial

    1. Top of page
    2. Editorial
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Erratum
    8. Mutations in Brief
    9. Mutations in Briefs
    10. Mutation and Polymorphism Reports
    1. VARIATION, DATABASES, and DISEASE: New directions for Human Mutation (pages 97–98)

      Mark H. Paalman, Richard G.H. Cotton and Haig H. Kazazian Jr.

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<97::AID-HUMU1>3.0.CO;2-5

  2. Mutation Updates

    1. Top of page
    2. Editorial
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Erratum
    8. Mutations in Brief
    9. Mutations in Briefs
    10. Mutation and Polymorphism Reports
    1. Mutations in holoprosencephaly (pages 99–108)

      Deeann Wallis and Maximilian Muenke

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<99::AID-HUMU2>3.0.CO;2-0

    2. Mutations of the human PTEN gene (pages 109–122)

      Dominique Bonneau and Michel Longy

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0

  3. Databases

    1. Top of page
    2. Editorial
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Erratum
    8. Mutations in Brief
    9. Mutations in Briefs
    10. Mutation and Polymorphism Reports
    1. You have free access to this content
      The Breast Cancer Information Core: Database design, structure, and scope (pages 123–131)

      Csilla Szabo, Anthony Masiello, Joseph F. Ryan and Lawrence C. Brody

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<123::AID-HUMU4>3.0.CO;2-Y

  4. Rapid Communications

    1. Top of page
    2. Editorial
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Erratum
    8. Mutations in Brief
    9. Mutations in Briefs
    10. Mutation and Polymorphism Reports
    1. The thermolabile variant 677C→T can further reduce activity when expressed in CIS with severe mutations for human methylenetetrahydrofolate reductase (pages 132–138)

      Philippe Goyette and Rima Rozen

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<132::AID-HUMU5>3.0.CO;2-T

    2. Study of the voltage-gated sodium channel β1 subunit gene (SCN1B) in the benign familial infantile convulsions syndrome (BFIC) (pages 139–142)

      Bruno Moulard, Catherine Buresi and Alain Malafosse

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<139::AID-HUMU6>3.0.CO;2-J

  5. Research Articles

    1. Top of page
    2. Editorial
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Erratum
    8. Mutations in Brief
    9. Mutations in Briefs
    10. Mutation and Polymorphism Reports
    1. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France (pages 143–156)

      Mireille Claustres, Caroline Guittard, Dominique Bozon, Françoise Chevalier, Claudine Verlingue, Claude Ferec, Emanuelle Girodon, Cécile Cazeneuve, Thierry Bienvenu, Guy Lalau, Viviane Dumur, Delphine Feldmann, Eric Bieth, Martine Blayau, Christine Clavel, Isabelle Creveaux, Marie-Claire Malinge, Nicole Monnier, Perrine Malzac, Hervé Mittre, Jean-Claude Chomel, Jean-Paul Bonnefont, Albert Iron, Michèle Chery and Marie Des Georges

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J

    2. OCRL1 mutation analysis in French Lowe syndrome patients: Implications for molecular diagnosis strategy and genetic counseling (pages 157–165)

      Nicole Monnier, Véronique Satre, Eliane Lerouge, Florence Berthoin and Joël Lunardi

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<157::AID-HUMU8>3.0.CO;2-9

    3. Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations (pages 166–174)

      Nadja Bogdanova, Marie McCluskey, Karin Sikmann, Arseni Markoff, Vassil Todorov, Dimitar Dimitrakov, Tina Schiavello, Mark Thomas, Luba Kalaydjieva, Bernd Dworniczak and Jürgen Horst

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<166::AID-HUMU9>3.0.CO;2-4

  6. Erratum

    1. Top of page
    2. Editorial
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Erratum
    8. Mutations in Brief
    9. Mutations in Briefs
    10. Mutation and Polymorphism Reports
    1. You have free access to this content
      Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients; Irina V. Mersiyanova, Sookhrat M. Ismailov, Alexandr V. Polyakov, Elena L. Dadali, Valeriy P. Fedotov, Eva Nelis, Ann Löfgren, Vincent Timmerman, Christine Van Broeckhoven, and Oleg V. Evgrafov (Article was originally published in Human Mutation 15:340–347, 2000) (page 175)

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<175::AID-HUMU10>3.0.CO;2-N

  7. Mutations in Brief

    1. Top of page
    2. Editorial
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Erratum
    8. Mutations in Brief
    9. Mutations in Briefs
    10. Mutation and Polymorphism Reports
    1. You have free access to this content
      Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families (page 176)

      Michael Koptides, Richard Mean, Kyproula Demetriou, Rolandos Constantinides, Alkis Pierides, Peter C. Harris and C. Constantinou Deltas

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<176::AID-HUMU11>3.0.CO;2-H

    2. You have free access to this content
      Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: Preliminary comparison of RNase cleavage, EMC and DHPLC assays (pages 176–177)

      Cecilia Giunta and Beat Steinmann

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<176::AID-HUMU12>3.0.CO;2-E

    3. You have free access to this content
      Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients (page 177)

      R. Santer, J. Rischewski, G. Block, M. Kinner, U. Wendel, J. Schaub and R. Schneppenheim

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<177::AID-HUMU13>3.0.CO;2-8

    4. You have free access to this content
      Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease (pages 177–178)

      Tsuyoshi Yoshihara, Masahiko Yamamoto, Manabu Doyu, Ken-Ichiro Mis, Naoki Hattori, Yasuhiro Hasegawa, Kenji Mokuno, Terunori Mitsuma and Gen Sobue

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<177::AID-HUMU14>3.0.CO;2-5

  8. Mutations in Briefs

    1. Top of page
    2. Editorial
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Erratum
    8. Mutations in Brief
    9. Mutations in Briefs
    10. Mutation and Polymorphism Reports
    1. You have free access to this content
      Eleven novel APC mutations identified in Portuguese FAP families (page 178)

      G. Isidro, P. Matos, S. Almeida, S. Claudino, B. Marshall, J. Soares, J. Leite, F. Regateiro, M.J. Brito, J. Giria, C. Castro, J. Ramos, L. Novais, H. Morna, A. Medeira, S. Castedo and M.G. Boavida

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<178::AID-HUMU15>3.0.CO;2-#

    2. You have free access to this content
      Structural evidence of genomic exon-deletion mediated by Alu-Alu recombination in a human case with heme oxygenase-1 deficiency (pages 178–179)

      Yutaka Saikawa, Hisashi Kaneda, Lijie Yue, Shoetu Shimura, Tomoko Toma, Yoshihito Kasahara, Akihiro Yachie and Shoichi Koizumi

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<178::AID-HUMU16>3.0.CO;2-X

    3. You have free access to this content
      mut0 methylmalonic acidemia: Eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation (page 179)

      A. Fuchshuber, B. Mucha, E.R. Baumgartner, M. Vollmer and F. Hildebrandt

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<179::AID-HUMU17>3.0.CO;2-R

  9. Mutation and Polymorphism Reports

    1. Top of page
    2. Editorial
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Erratum
    8. Mutations in Brief
    9. Mutations in Briefs
    10. Mutation and Polymorphism Reports
    1. A new polymorphism, g119A>G, in the integrin alpha 7 (ITGA7) gene (page 180)

      Doroti Pirulli, Silvia Zezlina, Laura Vatta, Paola Di Stefano, Michele Boniotto, Guido Tarone, Tiziana Mongini, Isabella Ugo, Laura Palmucci, Antonio Amoroso and Sergio Crovella

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<180::AID-HUMU18>3.0.CO;2-D

    2. Transthyretin Ala97Ser is associated with familial amyloidotic polyneuropathy in a Chinese-Taiwanese family (page 180)

      H.J. Lachmann, D.R. Booth, A. Bybee and P.N. Hawkins

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<180::AID-HUMU19>3.0.CO;2-A

    3. A novel variant of human lysozyme (T70N) is common in the normal population (page 180)

      David R. Booth, Mark B. Pepys and Philip N. Hawkins

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<180::AID-HUMU20>3.0.CO;2-#

    4. A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: First reported Korean case (pages 180–181)

      Eun-Ha Lee, Jae-Hyun Park, Chang-Jun Coe and Si-Houn Hahn

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<180::AID-HUMU21>3.0.CO;2-X

    5. Two novel germline mutations (Y548X and K732X) of the MLH1 gene in Czech patients with hereditary nonpolyposis colorectal cancer (page 181)

      Jan Hajer, Anna Kepelová, Zdena Zádorová and Milan Kment

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<181::AID-HUMU22>3.0.CO;2-R

    6. Common polymorphism in p53 intron 2, IVS2+38G>C (page 181)

      Sigitas J. Verselis and Frederick P. Li

      Article first published online: 28 JUL 2000 | DOI: 10.1002/1098-1004(200008)16:2<181::AID-HUMU23>3.0.CO;2-O

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