Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

1999

Volume 14, Issue 3

Pages 183–273

  1. Meeting Report

    1. Top of page
    2. Meeting Report
    3. Review Article
    4. Mutation Update
    5. Rapid Communication
    6. Research Articles
    7. Methods
    8. Letter to the Editor
    9. Mutations in Brief
    10. Mutation and Polymorphism Reports
    1. 6th International HUGO Mutation Database Meeting, March 27, 1999, Brisbane, Australia (pages 183–185)

      Ourania Horaitis and Richard G.H. Cotton

      Article first published online: 23 AUG 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<183::AID-HUMU1>3.0.CO;2-P

  2. Review Article

    1. Top of page
    2. Meeting Report
    3. Review Article
    4. Mutation Update
    5. Rapid Communication
    6. Research Articles
    7. Methods
    8. Letter to the Editor
    9. Mutations in Brief
    10. Mutation and Polymorphism Reports
    1. Protein misfolding and degradation in genetic diseases (pages 186–198)

      Peter Bross, Thomas J. Corydon, Brage S. Andresen, Malene M. Jørgensen, Lars Bolund and Niels Gregersen

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<186::AID-HUMU2>3.0.CO;2-J

  3. Mutation Update

    1. Top of page
    2. Meeting Report
    3. Review Article
    4. Mutation Update
    5. Rapid Communication
    6. Research Articles
    7. Methods
    8. Letter to the Editor
    9. Mutations in Brief
    10. Mutation and Polymorphism Reports
    1. You have free access to this content
      Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5 (pages 199–215)

      Sara E. Mole, Hannah M. Mitchison and Patricia B. Munroe

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<199::AID-HUMU3>3.0.CO;2-A

  4. Rapid Communication

    1. Top of page
    2. Meeting Report
    3. Review Article
    4. Mutation Update
    5. Rapid Communication
    6. Research Articles
    7. Methods
    8. Letter to the Editor
    9. Mutations in Brief
    10. Mutation and Polymorphism Reports
    1. TP53 mutation and haplotype analysis of two large African American families (pages 216–221)

      Jaclyn Hung, Betsy Mims, Guillermina Lozano, Louise Strong, Carolyn Harvey, Tina T.-Y. Chen, Victor Stastny and Gail Tomlinson

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<216::AID-HUMU4>3.0.CO;2-X

  5. Research Articles

    1. Top of page
    2. Meeting Report
    3. Review Article
    4. Mutation Update
    5. Rapid Communication
    6. Research Articles
    7. Methods
    8. Letter to the Editor
    9. Mutations in Brief
    10. Mutation and Polymorphism Reports
    1. Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT (pages 222–232)

      L. Christiansen, C. Ged, I. Hombrados, J. Brøns-Poulsen, A. Fontanellas, H. de Verneuil, M. Hørder and N.E. Petersen

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<222::AID-HUMU5>3.0.CO;2-V

    2. Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus (pages 233–239)

      Juliane L. Rocha, Eitan Friedman, Wolfanga Boson, Ayrton Moreira, Bonald Figueiredo, Bernardo Liberman, Luiz de Lacerda, Romulo Sandrini, Hans Graf, Sonia Martins, Marcia K. Puñales and Luiz De Marco

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<233::AID-HUMU6>3.0.CO;2-O

    3. Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype–phenotype correlation studies in spanish metachromatic leukodystrophy patients (pages 240–248)

      Laura Gort, M. Josep Coll and Amparo Chabás

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<240::AID-HUMU7>3.0.CO;2-L

    4. E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer (pages 249–255)

      Parry J. Guilford, Justin B.W. Hopkins, William M. Grady, Sanford D. Markowitz, Joseph Willis, Henry Lynch, Ashwani Rajput, Georgia L. Wiesner, Noralane M. Lindor, Lawrence J. Burgart, Tumi T. Toro, Don Lee, Jean-Marc Limacher, David W. Shaw, Michael P.N. Findlay and Anthony E. Reeve

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<249::AID-HUMU8>3.0.CO;2-9

    5. Molecular basis of late-life globoid cell leukodystrophy (pages 256–262)

      Rita De Gasperi, Miguel A. Gama Sosa, Edi Sartorato, Stefania Battistini, Srinivasa Raghavan and Edwin H. Kolodny

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<256::AID-HUMU9>3.0.CO;2-6

  6. Methods

    1. Top of page
    2. Meeting Report
    3. Review Article
    4. Mutation Update
    5. Rapid Communication
    6. Research Articles
    7. Methods
    8. Letter to the Editor
    9. Mutations in Brief
    10. Mutation and Polymorphism Reports
    1. Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method (pages 263–266)

      Katrien Storm, Sandra Willocx, Kris Flothmann and Guy Van Camp

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<263::AID-HUMU10>3.0.CO;2-X

  7. Letter to the Editor

    1. Top of page
    2. Meeting Report
    3. Review Article
    4. Mutation Update
    5. Rapid Communication
    6. Research Articles
    7. Methods
    8. Letter to the Editor
    9. Mutations in Brief
    10. Mutation and Polymorphism Reports
    1. Deep intronic mutations are rarely a cause of hemophilia B (pages 267–268)

      Jinong Feng, Qiang Liu, Joni Drost and Steve S. Sommer

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<267::AID-HUMU11>3.0.CO;2-I

  8. Mutations in Brief

    1. Top of page
    2. Meeting Report
    3. Review Article
    4. Mutation Update
    5. Rapid Communication
    6. Research Articles
    7. Methods
    8. Letter to the Editor
    9. Mutations in Brief
    10. Mutation and Polymorphism Reports
    1. You have free access to this content
      A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia (page 269)

      Petr A. Slominsky, Elena D. Markova, Marya I. Shadrina, Sergey N. Illarioshkin, Natalia I. Miklina, Svetlana A. Limborska and Irina A. Ivanova-Smolenskaya

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<269::AID-HUMU12>3.0.CO;2-9

    2. You have free access to this content
      Novel genetic polymorphisms in DNA repair genes: O6-methylguanine-DNA methyltransferase (MGMT) and N-methylpurine-DNA glycosylase (MPG) in lung cancer patients from Poland (pages 269–270)

      Marek Rusin, Arkadiusz Samojedny, Curtis C. Harris and Mieczyslaw Chorazy

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<269::AID-HUMU13>3.0.CO;2-6

  9. Mutation and Polymorphism Reports

    1. Top of page
    2. Meeting Report
    3. Review Article
    4. Mutation Update
    5. Rapid Communication
    6. Research Articles
    7. Methods
    8. Letter to the Editor
    9. Mutations in Brief
    10. Mutation and Polymorphism Reports
    1. Racial differences in the frequencies of cardiac β1-adrenergic receptor polymorphisms: Analysis of c145A>G and c1165G>C (page 271)

      J. Donald Moore, Deborah A. Mason, Stuart A. Green, Jenny Hsu and Stephen B. Liggett

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<271::AID-HUMU14>3.0.CO;2-Q

    2. A novel frameshift mutation (1651ins5) in exon 10 of the CFTR gene can be misinterpreted as a ΔF508 mutation (page 271)

      Gino Delaere, Karel Stuer, Katrien Storm, Patrick J. Willems and Wim Van Hul

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<271::AID-HUMU15>3.0.CO;2-N

    3. A novel missense mutation Ile193Val in cholesteryl ester transfer protein gene (page 271)

      Makoto Nagano, Mayumi Ito, Yukiko Sagehashi, Hiroaki Hattori and Tohru Egashira

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<271::AID-HUMU16>3.0.CO;2-K

    4. A novel missense mutation Thr316Ala in lysosomal acid lipase gene in Japanese population (page 271)

      Makoto Nagano, Tadao Iwasaki, Hiroaki Hattori and Tohru Egashira

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<271::AID-HUMU17>3.0.CO;2-H

    5. A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy (page 272)

      Giuseppe Castaldo, Antonella Fuccio, Cécile Cazeneuve, Luigi Picci, Donatello Salvatore, Maurizio Scarpa, Michel Goossens and Francesco Salvatore

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<272::AID-HUMU18>3.0.CO;2-B

    6. Identification of the new polymorphism IVS1-91 C→T in the beta globin gene (page 272)

      Paola Primignani, Maurizio Travi, Anita Biasi, Federica Sbrocca, Antonio Piga, Paola Scagni and Angelo Cantù Rajnoldi

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<272::AID-HUMU19>3.0.CO;2-8

    7. Mutation profile in the β-myosin heavy chain gene in hypertensive hypertrophic heart disease (page 272)

      C.P. Clifford and D.J.R. Nunez

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<272::AID-HUMU20>3.0.CO;2-Y

    8. Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia (pages 272–273)

      Larry Baum, C.P. Pang, Dorothy S.P. Fan, Priscilla M.K. Poon, Y.F. Leung, John K.H. Chua and Dennis S.C. Lam

      Article first published online: 2 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(1999)14:3<272::AID-HUMU21>3.0.CO;2-V

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