Human Mutation

Cover image for Human Mutation

September 2001

Volume 18, Issue 3

Pages 169–254

  1. Review Articles

    1. Top of page
    2. Review Articles
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    7. Mutation and Polymorphism Report
    1. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype–phenotype relationship (pages 169–189)

      Niels Gregersen, Brage S. Andresen, Morten J. Corydon, Thomas J. Corydon, Rikke K.J. Olsen, Lars Bolund and Peter Bross

      Version of Record online: 22 AUG 2001 | DOI: 10.1002/humu.1174

  2. Mutation Update

    1. Top of page
    2. Review Articles
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    7. Mutation and Polymorphism Report
    1. APECED mutations in the autoimmune regulator (AIRE) gene (pages 205–211)

      Maarit Heino, Pärt Peterson, Jun Kudoh, Nobuyoshi Shimizu, Stylianos E. Antonarakis, Hamish S. Scott and Kai Krohn

      Version of Record online: 22 AUG 2001 | DOI: 10.1002/humu.1176

  3. Research Articles

    1. Top of page
    2. Review Articles
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    7. Mutation and Polymorphism Report
    1. High incidence of N and K-Ras activating mutations in multiple myeloma and primary plasma cell leukemia at diagnosis (pages 212–224)

      Stéphane Bezieau, Marie-Claire Devilder, Hervé Avet-Loiseau, Marie-Paule Mellerin, Denis Puthier, Erwan Pennarun, Marie-José Rapp, Jean-Luc Harousseau, Jean-Paul Moisan and Régis Bataille

      Version of Record online: 22 AUG 2001 | DOI: 10.1002/humu.1177

    2. Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED (pages 225–232)

      Daniela Cihakova, Katarina Trebusak, Maarit Heino, Valentin Fadeyev, Anatoly Tiulpakov, Tadej Battelino, Attila Tar, Zita Halász, Peter Blümel, Sameh Tawfik, Kai Krohn, Jan Lebl and Pärt Peterson

      Version of Record online: 22 AUG 2001 | DOI: 10.1002/humu.1178

    3. Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea (pages 233–242)

      Pia Höglund, Markus Sormaala, Siru Haila, Jerzy Socha, Usha Rajaram, W. Scheurlen, Maarten Sinaasappel, Hugo De Jonge, Christer Holmberg, Hideto Yoshikawa and Juha Kere

      Version of Record online: 22 AUG 2001 | DOI: 10.1002/humu.1179

  4. Methods

    1. Top of page
    2. Review Articles
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    7. Mutation and Polymorphism Report
    1. You have free access to this content
      Mutation detection in the alpha-1 antitrypsin gene (PI) using denaturing gradient gel electrophoresis (pages 243–250)

      L. Lodewyckx, C. Vandevyver, C. Vandervorst, W. Van Steenbergen, J. Raus and L. Michiels

      Version of Record online: 22 AUG 2001 | DOI: 10.1002/humu.1180

  5. Mutations in Brief

    1. Top of page
    2. Review Articles
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    7. Mutation and Polymorphism Report
    1. You have free access to this content
      Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome (page 251)

      Paolo Comeglio, Alison L. Evans, Glen W. Brice and Anne H. Child

      Version of Record online: 22 AUG 2001 | DOI: 10.1002/humu.1181

    2. You have free access to this content
      Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy (pages 251–252)

      Thierry Bienvenu, Isabelle Souville, Karine Poirier, Cécile Aquaviva, Lydie Burglen, Jeanne Amiel, Bénédicte Héron, Anna Kaminska, Philippe Couvert, Cherif Beldjord and Jamel Chelly

      Version of Record online: 22 AUG 2001 | DOI: 10.1002/humu.1182

    3. You have free access to this content
      Molecular basis of phenylketonuria in Cuba (page 252)

      L.R. Desviat, B. Pérez, E. Gutierrez, A. Sánchez, B. Barrios and M. Ugarte

      Version of Record online: 22 AUG 2001 | DOI: 10.1002/humu.1183

    4. You have free access to this content
      Identification of four novel RB1 germline mutations in Korean retinoblastoma patients (page 252)

      Young Suk Yu, Il-Jin Kim, Ja-Lok Ku and Jae-Gahb Park

      Version of Record online: 22 AUG 2001 | DOI: 10.1002/humu.1184

    5. You have free access to this content
      Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients (page 253)

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

      Version of Record online: 22 AUG 2001 | DOI: 10.1002/humu.1185

    6. You have free access to this content
      Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation (page 253)

      Yasukazu Yamada, Kiyokuni Miura, Toshiyuki Kumagai, Chiemi Hayakawa, Shuji Miyazaki, Akiko Matsumoto, Kenji Kurosawa, Noriko Nomura, Hiroko Taniguchi, Shin-Ichi Sonta, Tsutomu Yamanaka and Nobuaki Wakamatsu

      Version of Record online: 22 AUG 2001 | DOI: 10.1002/humu.1186

  6. Mutation and Polymorphism Report

    1. Top of page
    2. Review Articles
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    7. Mutation and Polymorphism Report
    1. A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis (page 254)

      Chi-Fan Yang, Fuu-Jen Tsai, Shuan-Pei Lin, Cheng-Chun Lee and Jer-Yuarn Wu

      Version of Record online: 22 AUG 2001 | DOI: 10.1002/humu.1187

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