Human Mutation

Cover image for Human Mutation

Special Issue: The HUGO Mutation Database Initiative: Issues, Databases, and Perspectives for the New Millennium

January 2000

Volume 15, Issue 1

Pages 1–122

  1. Acknowledgments

    1. Top of page
    2. Acknowledgments
    3. Editorial
    4. Introduction
    5. MDI Special Articles
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    8. Mutation in Polymorphism Reports
    9. Mutation and Polymorphism Reports
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      Acknowledgments (page 1)

      Mark H. Paalman

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<1::AID-HUMU1>3.0.CO;2-1

  2. Editorial

    1. Top of page
    2. Acknowledgments
    3. Editorial
    4. Introduction
    5. MDI Special Articles
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    8. Mutation in Polymorphism Reports
    9. Mutation and Polymorphism Reports
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      Overview: Progress toward a new millennium of medical genetics (pages 2–3)

      Haig H. Kazazian, Jr.

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<2::AID-HUMU2>3.0.CO;2-Y

  3. Introduction

    1. Top of page
    2. Acknowledgments
    3. Editorial
    4. Introduction
    5. MDI Special Articles
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    8. Mutation in Polymorphism Reports
    9. Mutation and Polymorphism Reports
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      Progress of the HUGO Mutation Database Initiative: A brief introduction to the Human Mutation MDI Special Issue (pages 4–6)

      Richard G.H. Cotton

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<4::AID-HUMU3>3.0.CO;2-T

  4. MDI Special Articles

    1. Top of page
    2. Acknowledgments
    3. Editorial
    4. Introduction
    5. MDI Special Articles
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    8. Mutation in Polymorphism Reports
    9. Mutation and Polymorphism Reports
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      Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion (pages 7–12)

      Johan T. den Dunnen and Stylianos E. Antonarakis

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N

    2. Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress (pages 13–15)

      Charles R. Scriver, Piotr M. Nowacki and Heikki Lehväslaiho

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<13::AID-HUMU5>3.0.CO;2-Y

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      Quality control in the discovery, reporting, and recording of genomic variation (pages 16–21)

      Richard G.H. Cotton and Ourania Horaitis

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<16::AID-HUMU6>3.0.CO;2-S

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      Coping with change: Intellectual property rights, new legislation, and the Human Mutation Database Initiative (pages 22–29)

      Stephen M. Maurer

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<22::AID-HUMU7>3.0.CO;2-Q

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      Ethical guideposts for allelic variation databases (pages 30–35)

      Bartha Maria Knoppers and Claude M. Laberge

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<30::AID-HUMU8>3.0.CO;2-M

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      Central mutation databases—A review (pages 36–44)

      Christopher J. Porter, C. Conover Talbot, Jr. and A. Jamie Cuticchia

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<36::AID-HUMU9>3.0.CO;2-D

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      Human Gene Mutation Database—A biomedical information and research resource (pages 45–51)

      Michael Krawczak, Edward V. Ball, Iain Fenton, Peter D. Stenson, Shaun Abeysinghe, Nick Thomas and David N. Cooper

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<45::AID-HUMU10>3.0.CO;2-T

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      Sequence variation database project at the European Bioinformatics Institute (pages 52–56)

      Heikki Lehväslaiho, Elia Stupka and Michael Ashburner

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<52::AID-HUMU11>3.0.CO;2-Y

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      Online Mendelian Inheritance In Man (OMIM) (pages 57–61)

      Ada Hamosh, Alan F. Scott, Joanna Amberger, David Valle and Victor A. McKusick

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<57::AID-HUMU12>3.0.CO;2-G

    10. Future vision of the GDB Human Genome Database (pages 62–67)

      A. Jamie Cuticchia

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<62::AID-HUMU13>3.0.CO;2-R

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      Use of molecular variation in the NCBI dbSNP database (pages 68–75)

      Stephen T. Sherry, Minghong Ward and Karl Sirotkin

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<68::AID-HUMU14>3.0.CO;2-6

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      MuStaR™ and other software for locus-specific mutation databases (pages 76–85)

      Alastair F. Brown and Mark A. McKie

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<76::AID-HUMU15>3.0.CO;2-8

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      UMD (Universal Mutation Database): A generic software to build and analyze locus-specific databases (pages 86–94)

      Christophe Béroud, Gwenaëlle Collod-Béroud, Catherine Boileau, Thierry Soussi and Claudine Junien

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4

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      Eye disorder database “KMeyeDB” (pages 95–98)

      S. Minoshima, S. Mitsuyama, S. Ohno, T. Kawamura and N. Shimizu

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<95::AID-HUMU17>3.0.CO;2-3

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      PAHdb: A locus-specific knowledgebase (pages 99–104)

      Charles R. Scriver, Paula J. Waters, Christineh Sarkissian, Shannon Ryan, Lynne Prevost, David Côté, Jaroslav Novak, Saeed Teebi and Piotr M. Nowacki

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<99::AID-HUMU18>3.0.CO;2-P

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      p53 Website and analysis of p53 gene mutations in human cancer: Forging a link between epidemiology and carcinogenesis (pages 105–113)

      Thierry Soussi, Karim Dehouche and Christophe Béroud

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<105::AID-HUMU19>3.0.CO;2-G

  5. Mutations in Brief

    1. Top of page
    2. Acknowledgments
    3. Editorial
    4. Introduction
    5. MDI Special Articles
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    8. Mutation in Polymorphism Reports
    9. Mutation and Polymorphism Reports
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      Somatic mosaicism in von Hippel-Lindau disease (page 114)

      Alessandra Murgia, Maddalena Martella, Cinzia Vinanzi, Roberta Polli, Giorgio Perilongo and Giuseppe Opocher

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<114::AID-HUMU20>3.0.CO;2-7

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      Erratum: Analysis of DNA elements that modulate myosin VIIa expression in humans (pages 114–115)

      D.J. Orten, M.D. Weston, P.M. Kelley, C.W. Cremers, M. Wagenaar, S.G. Jacobson and W.J. Kimberling

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<114::AID-HUMU21>3.0.CO;2-4

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      A novel splice-acceptor site mutation (IVS13-2A>T) of polycystic kidney disease 1 (PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the mRNA transcript (page 115)

      Anna Thongnoppakhun, Nanyawan Rungroj, Prapon Wilairat, Kriengsak Vareesangthip, Chintana Sirinavin and Pa-thai Yenchitsomanus

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<115::AID-HUMU22>3.0.CO;2-Z

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      Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations (pages 115–116)

      Hans H. Seydewitz and Dietrich Matern

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<115::AID-HUMU23>3.0.CO;2-W

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      Four novel MSH2 / MLH1 gene mutations in Portuguese HNPCC families (page 116)

      G. Isidro, I. Veiga, P. Matos, S. Almeida, S. Bizarro, B. Marshall, M. Baptista, J. Leite, F. Regateiro, J. Soares, S. Castedo and M.G. Boavida

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<116::AID-HUMU24>3.0.CO;2-Q

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      Nine independent F9 mutations in the Mexican hemophilia B population: Nonrandom recurrences of point mutation events in the human germline (pages 116–117)

      Ana Rebeca Jaloma-Cruz, William A. Scaringe, Joni B. Drost, Stacy Roberts, Xuemin Li, Patricio Barros-Núñez, Luis E. Figuera, Fernando Rivas, José María Cantú and Steve S. Sommer

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<116::AID-HUMU25>3.0.CO;2-N

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      Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients (page 117)

      Paola Orlandi, Kostas Ritis, Viviana Moschese, Federica Angelini, Konstantinos Arvanitidis, Matthaios Speletas, Paschalis Sideras, Alessandro Plebani and Paolo Rossi

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<117::AID-HUMU26>3.0.CO;2-H

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      Mutations of the factor VIII gene in Thai hemophilia A patients (pages 117–118)

      V. Akkarapatumwong, S. Oranwiroon, P. Pung-amritt, A. Treesucon, P. Thanootarakul, G. Veerakul, C. Mahasandana, S. Panyim and P. Yenchitsomanus

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<117::AID-HUMU27>3.0.CO;2-E

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      Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency (page 118)

      E. Mayatepek, J. Nezu, I. Tamai, A. Oku, M. Katsura, M. Shimane and A. Tsuji

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO;2-8

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      MEFV mutations in Turkish patients suffering from familial Mediterranean fever (pages 118–119)

      Nejat Akar, Müge Misiroglu, Fatos Yalcinkaya, Ece Akar, Nilgün Cakar, Necmiye Tümer, Mustafa Akcakus, Hakki Tastan and Yaacov Matzner

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU29>3.0.CO;2-5

  6. Mutation and Polymorphism Reports

    1. Top of page
    2. Acknowledgments
    3. Editorial
    4. Introduction
    5. MDI Special Articles
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    8. Mutation in Polymorphism Reports
    9. Mutation and Polymorphism Reports
    1. The m2 and m4 polymorphisms in CYP1A1 by NcoI digest—Revision of detection method (page 120)

      David Israeli, Yael Patael, Tal Friedman and Eitan Friedman

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<120::AID-HUMU30>3.0.CO;2-H

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      A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation (page 120)

      Jaana M. Hartikainen, Mia M. Pirskanen, Airi H. Arffman, Ulla K. Ristonmaa and Arto J. Mannermaa

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<120::AID-HUMU31>3.0.CO;2-E

    3. Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE (page 120)

      Rachel Bradbury, Elizabeth Fagan and Stewart J. Payne

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<120::AID-HUMU32>3.0.CO;2-B

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      A new mitochondrial DNA mutation in the tRNA leucine 1 gene (C3275A) in a patient with Leber's hereditary optic neuropathy (pages 120–121)

      Jose-Raul Garcia-Lozano, Isabel Aguilera, Juan Bautista and Antonio Nuñez-Roldan

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<120::AID-HUMU33>3.0.CO;2-8

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      A novel splice mutation, 4006-1G>A, in intron 21 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (page 121)

      H. Mittre, J.F. Duhamel, G. Abeguile, M. Lemaire and P. Leymarie

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU34>3.0.CO;2-2

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    7. You have free access to this content
      Characterization of three new VNTR alleles in the promoter region of the TPMT gene (page 121)

      Sandra Alves, Fátima Ferreira, Maria João Prata and António Amorim

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU36>3.0.CO;2-X

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      A novel alpha-1-antitrypsin R281del variant found in a population sample from the Basque country (pages 121–122)

      Susana Seixas, Oscar Garcia, António Amorim and Jorge Rocha

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU37>3.0.CO;2-U

  7. Mutation in Polymorphism Reports

    1. Top of page
    2. Acknowledgments
    3. Editorial
    4. Introduction
    5. MDI Special Articles
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    8. Mutation in Polymorphism Reports
    9. Mutation and Polymorphism Reports
    1. You have free access to this content
      Novel TIGR sequence alteration Val53Ala (page 122)

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

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU38>3.0.CO;2-O

  8. Mutation and Polymorphism Reports

    1. Top of page
    2. Acknowledgments
    3. Editorial
    4. Introduction
    5. MDI Special Articles
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    8. Mutation in Polymorphism Reports
    9. Mutation and Polymorphism Reports
    1. You have free access to this content
      A novel polymorphism (g1344G>C ) in exon 2 of the CD14 gene (page 122)

      Catherine M. Hayden, Jack Goldblatt and Peter N. LeSouef

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU39>3.0.CO;2-L

    2. You have free access to this content
      Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia (page 122)

      Martin Gencik, Alexandra Gencik, Wilhelm Mortier and Jörg T. Epplen

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU40>3.0.CO;2-A

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      A new germline mutation, R600Q, within the coding region of RET proto-oncogene: A rare polymorphism or a MEN 2 causing mutation? (page 122)

      M.E. Sáez, A. Ruiz, A. Cebrián, F. Morales, M. Robledo, G. Antiñolo and S. Borrego

      Article first published online: 27 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU41>3.0.CO;2-7

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