Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

1998

Volume 12, Issue 1

Pages 1–73

  1. Special Articles

    1. Top of page
    2. Special Articles
    3. Review Articles
    4. Research Articles
    5. Erratum
    6. Mutations in Brief
    1. Proof of “disease causing” mutation (pages 1–3)

      RGH Cotton and CR Scriver

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<1::AID-HUMU1>3.0.CO;2-M

  2. Review Articles

    1. Top of page
    2. Special Articles
    3. Review Articles
    4. Research Articles
    5. Erratum
    6. Mutations in Brief
    1. Pooled analysis of p53 mutations in hematological malignancies (pages 4–18)

      Miron Prokocimer, Ron Unger, Hedy S. Rennert, Varda Rotter and Gad Rennert

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<4::AID-HUMU2>3.0.CO;2-G

  3. Research Articles

    1. Top of page
    2. Special Articles
    3. Review Articles
    4. Research Articles
    5. Erratum
    6. Mutations in Brief
    1. Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries (pages 19–26)

      AJIW Bergman, IET van den Berg, W Brink, BT Poll-The, JK Ploos van Amstel and R Berger

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<19::AID-HUMU3>3.0.CO;2-3

    2. Molecular diagnosis of McArdle disease: Revised genomic structure of the myophosphorylase gene and identification of a novel mutation (pages 27–32)

      Christian Kubisch, Eva M. Wicklein and Thomas J. Jentsch

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<27::AID-HUMU4>3.0.CO;2-#

    3. Deletion analysis of Bulgarian SMA families (pages 33–38)

      Albena Jordanova, Violeta Stoyanova, Maria Uzunova, Ivan Litvinenko and Ivo Kremensky

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<33::AID-HUMU5>3.0.CO;2-Y

    4. Mutations of the cationic trypsinogen in hereditary pancreatitis (pages 39–43)

      Niels Teich, Joachim Mössner and Volker Keim

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<39::AID-HUMU6>3.0.CO;2-P

    5. Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals (pages 44–51)

      Stefan Ries, Christa Büchler, Gisela Schindler, Charalampos Aslanidis, Detlev Ameis, Christoph Gasche, Nikola Jung, Axel Schambach, Petra Fehringer, Marie T. Vanier, Dominique C. Belli, Heiner Greten and Gerd Schmitz

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<44::AID-HUMU7>3.0.CO;2-O

    6. Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness (pages 52–58)

      Charlotta Olsson, Björn Zethelius, Maria Lagerström-Fermér, Johan Asplund, Christian Berne and Ulf Landegren

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<52::AID-HUMU8>3.0.CO;2-K

    7. Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies (pages 59–68)

      Kaisa Silander, Päivi Meretoja, Vesa Juvonen, Jaakko Ignatius, Helena Pihko, Ari Saarinen, Tiina Wallden, Eila Herrgård, Pertti Aula and Marja-Liisa Savontaus

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<59::AID-HUMU9>3.0.CO;2-A

  4. Erratum

    1. Top of page
    2. Special Articles
    3. Review Articles
    4. Research Articles
    5. Erratum
    6. Mutations in Brief
    1. You have free access to this content
      Zhang C, Liu VWS, Addessi CL, Sheffield DA, Linnane AW, Nagley P (1997) Differential occurrence of mutation in mitochondrial DNA of human skeletal muscle during aging. Hum Mutat 11:360–371. (page 69)

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<69::AID-HUMU10>3.0.CO;2-#

  5. Mutations in Brief

    1. Top of page
    2. Special Articles
    3. Review Articles
    4. Research Articles
    5. Erratum
    6. Mutations in Brief
    1. Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish familes affected with autosomal dominant retinal degenerations (page 70)

      MJ Trujillo, J Bueno, A Osorio, R Sanz, B Garcia-Sandoval, C Ramos and C Ayuso

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU11>3.0.CO;2-M

    2. Novel germline p16INK4 allele (Asp145Cys) in a family with multiple pancreatic carcinomas (page 70)

      Christopher A. Moskaluk, Ralph H. Hruban, Amanda Lietman, Tom Smyrk, Lavonne Fusaro, Ramon Fusaro, Jane Lynch, Charles J. Yeo, Charles E. Jackson, Henry T. Lynch and Scott E. Kern

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU12>3.0.CO;2-J

    3. Two novel mutations (10410 T→G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation (page 70)

      Milena Cau, Antonio Cao, Daniela Loi, Alberto Puddu, Francesco Muntoni, Anna Mateddu and Maria Antonietta Melis

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU13>3.0.CO;2-G

    4. Variable penetrance of familial pheochromocytoma associated with the von Hippel Lindau gene mutation, S68W (page 71)

      Roger Martin, Athel Hockey, Ian Walpole and Jack Goldblatt

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<71::AID-HUMU14>3.0.CO;2-A

    5. New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy (page 71)

      AM Misrahi, V Plante, T Lalu, I Serre, D Adams, DC Lacroix and G Saïd

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<71::AID-HUMU15>3.0.CO;2-7

    6. Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes (pages 71–72)

      Monica Mottes, Macarena Gomez Lira, Francesca Zolezzi, Maurizia Valli, Veronica Lisi and Peter Freising

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<71::AID-HUMU16>3.0.CO;2-4

    7. Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome (page 72)

      Jesaia Benhorin, Maya Goldmit, Jean W. MacCluer, John Blangero, Ruth Goffen, Ayelet Leibovitch, Ayelet Rahat, Qing Wang, Aaron Medina, Jeffrey Towbin and Batsheva Kerem

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU17>3.0.CO;2-Z

    8. A frequent mutation in the acidic proline-rich protein gene, PRH2, causing a Q147K change closely adjacent to the bacterial binding domain of the cognate salivary PRP (Pr1′) in Afro-Americans (page 72)

      Edwin A. Azen

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU18>3.0.CO;2-W

    9. A new glucose 6 phosphate dehydrogenase variant, G6PD Sinnai (34 G→T) (pages 72–73)

      Renzo Galanello, Daniela Loi, Carla Sollaino, Sandra Dessì, Antonio Cao and Maria Antonietta Melis

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU19>3.0.CO;2-T

    10. Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability (page 73)

      Klaus K.-F. Herfarth, Olagunju A. Ogunbiyi, Jeffrey F. Moley, Ira J. Kodner, Samuel A. Wells Jr. and Paul J. Goodfellow

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:1<73::AID-HUMU20>3.0.CO;2-F

SEARCH

SEARCH BY CITATION