Human Mutation

Cover image for Human Mutation

March 2002

Volume 19, Issue 3

Pages 189–311

  1. Review Article

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Databases
    5. Rapid Communication
    6. Research Articles
    7. Mutations in Brief
  2. Mutation Update

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Databases
    5. Rapid Communication
    6. Research Articles
    7. Mutations in Brief
    1. Mutations in the RUNX2 gene in patients with cleidocranial dysplasia (pages 209–216)

      Florian Otto, Hirokazu Kanegane and Stefan Mundlos

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.10043

  3. Databases

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Databases
    5. Rapid Communication
    6. Research Articles
    7. Mutations in Brief
    1. G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations (pages 217–224)

      Colin J. Kwok, Andrew C.R. Martin, Shannon W.N. Au and Veronica M.S. Lam

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.10036

    2. HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server (pages 225–233)

      Ross C. Hardison, David H.K. Chui, Belinda Giardine, Cathy Riemer, George P. Patrinos, Nicholas Anagnou, Webb Miller and Henri Wajcman

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.10044

  4. Rapid Communication

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Databases
    5. Rapid Communication
    6. Research Articles
    7. Mutations in Brief
    1. The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines (pages 234–239)

      Belén Bornstein, Jose Antonio Mas, Miguel Angel Fernández-Moreno, Yolanda Campos, Miguel Angel Martín, Pilar del Hoyo, Juan Carlos Rubio, Joaquín Arenas and Rafael Garesse

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.10050

  5. Research Articles

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Databases
    5. Rapid Communication
    6. Research Articles
    7. Mutations in Brief
    1. Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families (pages 240–250)

      Marie McCluskey, Tina Schiavello, Michael Hunter, Janina Hantke, Dora Angelicheva, Nadja Bogdanova, Arseni Markoff, Mark Thomas, Bernd Dworniczak, Juergen Horst and Luba Kalaydjieva

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.10045

    2. Identification of 33 polymorphisms in the adipocyte-derived leucine aminopeptidase (ALAP) gene and possible association with hypertension (pages 251–257)

      Nao Yamamoto, Junko Nakayama, Kimiko Yamakawa-Kobayashi, Hideo Hamaguchi, Ryunosuke Miyazaki and Tadao Arinami

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.10047

    3. Structure, genomic DNA typing, and kinetic characterization of the D allozyme of placental alkaline phosphatase (PLAP/ALPP) (pages 258–267)

      Charlotte Wennberg, Alexey Kozlenkov, Sonia Di Mauro, Nils Fröhlander, Lars Beckman, Marc F. Hoylaerts and José Luis Millán

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.10052

    4. Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D (pages 268–273)

      Benigna von Brederlow, Hanno Bolz, Andreas Janecke, Alicia La O Cabrera, Günther Rudolph, Birgit Lorenz, Eberhard Schwinger and Andreas Gal

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.10049

    5. The identification and classification of 41 novel mutations in the factor VIII gene (F8C) (pages 274–278)

      J.A. Cutler, M.J. Mitchell, M.P. Smith and G.F. Savidge

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.10056

    6. A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1 (pages 279–286)

      Yaping Wang, Waltraut Friedl, Marlies Sengteller, Matthias Jungck, Isabel Filges, Peter Propping and Elisabeth Mangold

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.10042

    7. Reliability of DHPLC in mutational screening of β-globin (HBB) alleles (pages 287–295)

      Alessia Colosimo, Valentina Guida, Alessandro De Luca, Maria Pia Cappabianca, Ida Bianco, Giandomenico Palka and Bruno Dallapiccola

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.10046

    8. A new strategy for mannose-binding lectin gene haplotyping (pages 296–306)

      Angelica Beate Winter Boldt and Maria Luiza Petzl-Erler

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.10051

  6. Mutations in Brief

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Databases
    5. Rapid Communication
    6. Research Articles
    7. Mutations in Brief
    1. You have free access to this content
      Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain (page 307)

      Gemma Llort, Carmen Yagüe Muñoz, Mercè Peris Tuser, Ignacio Blanco Guillermo, José Ramón Germà Lluch, Allen E. Bale and Mayra Alvarez Franco

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.9014

    2. You have free access to this content
      Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: A founder mutation of BRCA1 identified in the Chinese population (pages 307–308)

      Ui-Soon Khoo, Kelvin Y.K. Chan, Annie N.Y. Cheung, W.C. Xue, D.H. Shen, K.Y. Fung, Hextan Y.S. Ngan, K.W. Choy, C.P. Pang, C.S.P. Poon, A.Y.A. Poon and Hilmi Ozcelik

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.9015

    3. You have free access to this content
      Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism (page 308)

      M. Mangino, E. Flex, M.C. Digilio, A. Giannotti and B. Dallapiccola

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.9016

    4. You have free access to this content
      Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients (pages 308–309)

      Susan Kupka, Tímea Tóth, Maciej Wróbel, Ulrike Zeißler, Witold Szyfter, Krzysztof Szyfter, Grazyna Niedzielska, Jerzy Bal, Hans-Peter Zenner, István Sziklai, Nikolaus Blin and Markus Pfister

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.9017

    5. You have free access to this content
      NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas (page 309)

      Lan Kluwe, Reinhard E. Friedrich, Bruce Korf, Raimund Fahsold and Victor-F. Mautner

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.9018

    6. You have free access to this content
      Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy (pages 309–310)

      Giovanni Cuda, Andrea Mussari, Daniela Concolino, Francesco S. Costanzo and Pietro Strisciuglio

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.9019

    7. You have free access to this content
      Molecular study of the hydroxymethlybilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria (page 310)

      Anita Gregor, Xiaoye Schneider-Yin, Urszula Szlendak, Albert Wettstein, Agnieszka Lipniacka, Urszula B. Rüfenacht and Elisabeth I. Minder

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.9020

    8. You have free access to this content
      Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort (page 311)

      Caroline F. Bunn, Caroline J. Lintott, Russell S. Scott and Peter M. George

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.9021

    9. You have free access to this content
      Erratum: Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients (page 311)

      Viera Kuhrová, Hana Francová, Petra Zapletalová, Tomáš Freiberger, Lenka Fajkusová, Eva Hrabincová, Romana Slováčková and Libor Kozák

      Article first published online: 13 FEB 2002 | DOI: 10.1002/humu.9022

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