Human Mutation

Cover image for Human Mutation

April 2003

Volume 21, Issue 4

Pages 331–454

  1. Editorial

    1. Top of page
    2. Editorial
    3. Databases
    4. Review Articles
    5. Research Articles
    6. Commentary
    7. PKU Mutations in Brief
    8. Rapid Communication
    9. Research Articles
    10. Letter to the Editor
    11. Mutations in Brief
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      Focus on the molecular genetics of phenylketonuria (pages 331–332)

      Johannes Zschocke

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.10208

  2. Databases

    1. Top of page
    2. Editorial
    3. Databases
    4. Review Articles
    5. Research Articles
    6. Commentary
    7. PKU Mutations in Brief
    8. Rapid Communication
    9. Research Articles
    10. Letter to the Editor
    11. Mutations in Brief
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      PAHdb 2003: What a locus-specific knowledgebase can do (pages 333–344)

      Charles R. Scriver, Mélanie Hurtubise, David Konecki, Manyphong Phommarinh, Lynne Prevost, Heidi Erlandsen, Ray Stevens, Paula J. Waters, Shannon Ryan, David McDonald and Christineh Sarkissian

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.10200

  3. Review Articles

    1. Top of page
    2. Editorial
    3. Databases
    4. Review Articles
    5. Research Articles
    6. Commentary
    7. PKU Mutations in Brief
    8. Rapid Communication
    9. Research Articles
    10. Letter to the Editor
    11. Mutations in Brief
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      Phenylketonuria mutations in Europe (pages 345–356)

      Johannes Zschocke

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.10192

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  4. Research Articles

    1. Top of page
    2. Editorial
    3. Databases
    4. Review Articles
    5. Research Articles
    6. Commentary
    7. PKU Mutations in Brief
    8. Rapid Communication
    9. Research Articles
    10. Letter to the Editor
    11. Mutations in Brief
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      Phenylketonuria: Genotype–phenotype correlations based on expression analysis of structural and functional mutations in PAH (pages 370–378)

      Angel L. Pey, Lourdes R. Desviat, Alejandra Gámez, Magdalena Ugarte and Belén Pérez

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.10198

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      Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus (pages 379–386)

      Mary Gable, Margaret Williams, Anne Stephenson, Yoshiyuki Okano, Susan Ring, Melanie Hurtubise and Linda Tyfield

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.10199

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      Genetic diversity within the R408W phenylketonuria mutation lineages in Europe (pages 387–393)

      Orna Tighe, Donncha Dunican, Charles O'Neill, Giorgio Bertorelle, Diane Beattie, Colin Graham, Johannes Zschocke, Francesco Cali, Valentino Romano, Eva Hrabincova, Libor Kozak, Marina Nechyporenko, Ludmilla Livshits, Per Guldberg, Monika Jurkowska, Cezary Zekanowski, Belen Perez, Lourdes Ruiz Desviat, Magdalena Ugarte, Vaidutis Kučinskas, Per Knappskog, Eileen Treacy, Eileen Naughten, Linda Tyfield, Susan Byck, Charles R. Scriver, Philip D. Mayne and David T. Croke

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.10195

  5. Commentary

    1. Top of page
    2. Editorial
    3. Databases
    4. Review Articles
    5. Research Articles
    6. Commentary
    7. PKU Mutations in Brief
    8. Rapid Communication
    9. Research Articles
    10. Letter to the Editor
    11. Mutations in Brief
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      A role for overdominant selection in phenylketonuria? Evidence from molecular data (pages 394–397)

      Michael Krawczak and Johannes Zschocke

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.10205

  6. PKU Mutations in Brief

    1. Top of page
    2. Editorial
    3. Databases
    4. Review Articles
    5. Research Articles
    6. Commentary
    7. PKU Mutations in Brief
    8. Rapid Communication
    9. Research Articles
    10. Letter to the Editor
    11. Mutations in Brief
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      The molecular basis of phenylketonuria in Lithuania (page 398)

      J. Kasnauskiene, S. Giannattasio, P. Lattanzio, L. Cimbalistiene and V. Kučinskas

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9113

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      The molecular basis of phenylketonuria in Latvia (pages 398–399)

      N. Pronina, S. Giannattasio, P. Lattanzio, R. Lugovska, P. Vevere and A. Kornejeva

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9114

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      The molecular basis of phenylalanine hydroxylase deficiency in Croatia (page 399)

      Johannes Zschocke, Astrid Preusse, Vladimir Sarnavka, Ksenija Fumic, Duško Mardešic, Georg F. Hoffmann and Ivo Baric

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9115

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      Mutational spectrum in German patients with phenylalanine hydroxylase deficiency (pages 399–400)

      Christa Aulehla-Scholz and Helmut Heilbronner

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9116

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      Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency (page 400)

      M. Lindner, R. Steinfeld, P. Burgard, A. Schulze, E. Mayatepek and J. Zschocke

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9117

  7. Rapid Communication

    1. Top of page
    2. Editorial
    3. Databases
    4. Review Articles
    5. Research Articles
    6. Commentary
    7. PKU Mutations in Brief
    8. Rapid Communication
    9. Research Articles
    10. Letter to the Editor
    11. Mutations in Brief
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      Mutations in the AUH gene cause 3-methylglutaconic aciduria type I (pages 401–407)

      T.B. Nga Ly, Verena Peters, K. Michael Gibson, Michael Liesert, Wolfgang Buckel, Bridget Wilcken, Kevin Carpenter, Regina Ensenauer, Georg F. Hoffmann, Matthias Mack and Johannes Zschocke

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.10202

  8. Research Articles

    1. Top of page
    2. Editorial
    3. Databases
    4. Review Articles
    5. Research Articles
    6. Commentary
    7. PKU Mutations in Brief
    8. Rapid Communication
    9. Research Articles
    10. Letter to the Editor
    11. Mutations in Brief
    1. Human growth hormone 1 (GH1) gene expression: Complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region (pages 408–423)

      Martin Horan, David S. Millar, Jürgen Hedderich, Geraint Lewis, Vicky Newsway, Neil Mo, Linda Fryklund, Annie M. Procter, Michael Krawczak and David N. Cooper

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.10167

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      Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature (pages 424–440)

      David S. Millar, Mark D. Lewis, Martin Horan, Vicky Newsway, Tammy E. Easter, John W. Gregory, Linda Fryklund, Martin Norin, Elizabeth C. Crowne, Sally J. Davies, Phillip Edwards, Jeremy Kirk, Kim Waldron, Patricia J. Smith, John A. Phillips III, Maurice F. Scanlon, Michael Krawczak, David N. Cooper and Annie M. Procter

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.10168

  9. Letter to the Editor

    1. Top of page
    2. Editorial
    3. Databases
    4. Review Articles
    5. Research Articles
    6. Commentary
    7. PKU Mutations in Brief
    8. Rapid Communication
    9. Research Articles
    10. Letter to the Editor
    11. Mutations in Brief
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      Mitochondrial DNA mutation correlates with stage progression and prognosis in non-small cell lung cancer (pages 441–443)

      Wataru Matsuyama, Masanori Nakagawa, Joeji Wakimoto, Yasunobu Hirotsu, Masaharu Kawabata and Mitsuhiro Osame

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.10196

  10. Mutations in Brief

    1. Top of page
    2. Editorial
    3. Databases
    4. Review Articles
    5. Research Articles
    6. Commentary
    7. PKU Mutations in Brief
    8. Rapid Communication
    9. Research Articles
    10. Letter to the Editor
    11. Mutations in Brief
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      Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset (page 444)

      J. Häberle, E. Schmidt, S. Pauli, B. Rapp, E. Christensen, B. Wermuth and H.G. Koch

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9118

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      Germline mutations in the BRCA1 and BRCA2 genes in Turkish breast/ovarian cancer patients (pages 444–445)

      A. Esra Manguoǧlu, Güven Lüleci, Tayfun Özçelik, Taner Çolak, Hagit Schayek, Mustafa Akaydın and Eitan Friedman

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9119

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      A double missense variation of the BUB1 gene and a defective mitotic spindle checkpoint in the pancreatic cancer cell line Hs766T (page 445)

      Paula M. Hempen, Harsha Kurpad, Eric S. Calhoun, Susan Abraham and Scott E. Kern

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9120

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      Identification of six novel MSH2 and MLH1 germline mutations in HNPCC (pages 445–446)

      Stefan Krüger, Jens Plaschke, Birgit Jeske, Heike Görgens, Steffen R. Pistorius, Andrea Bier, Friedmar R. Kreuz, Franz Theissig, Daniela E. Aust, Hans D. Saeger and Hans K. Schackert

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9121

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      Identification of seven novel mutations in the GAN gene (page 446)

      P. Bomont, C. Ioos, C. Yalcinkaya, R. Korinthenberg, JM. Vallat, S. Assami, A. Munnich, B. Chabrol, G. Kurlemann, M. Tazir and M. Koenig

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9122

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      Genetic analysis of familial colorectal cancer in Israeli Arabs (pages 446–447)

      Rakefet Chen-Shtoyerman, Livia Theodor, Ester Harmati, Eitan Friedman, Samir Dacka, Yael Kopelman, Amos Sternberg, Raz Zarivach, Simon Bar-Meir and Zvi Fireman

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9123

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      Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations (page 447)

      Petra H.L. Schuilenga-Hut, Pieter v.d. Vlies, Marcel F. Jonkman, Esmé Waanders, Charles H.C.M. Buys and Hans Scheffer

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9124

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      Genetic analysis of Variegate Porphyria (VP) in Italy: Identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene (page 448)

      Mauro D'Amato, Margherita Bonuglia, Simona Barile, Daniela Griso, Annelisa Macri and Gianfranco Biolcati

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9125

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      Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: Identification of four novel truncating mutations (page 448)

      Mercedes Duran, Eva Esteban-Cardeñosa, Eladio Velasco, Mar Infante and Cristina Miner

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9126

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      Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia (page 449)

      Zdena Bartosova, Ivana Fridrichova, Maria Bujalkova, Brigitte Wolf, Denisa Ilencikova, Peter Krizan, Peter Hlavcak, Julius Palaj, Ludovit Lukac, Margita Lukacova, Andrej Böör, Ritva Haider, Josef Jiricny, Minna Nyström-Lahti and Giancarlo Marra

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9127

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      Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: Identification of 13 novel mutations (pages 449–450)

      Chi Hwa Kim, Hye Zin Hwang, Seng Mi Song, Kyung Hoon Paik, Eun Kyung Kwon, Kwang Bin Moon, Jeong Hyeok Yoon, Cheol Kyu Han and Dong-Kyu Jin

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9128

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      Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia (page 450)

      Silvia Saviozzi, Alessandro Saluto, Maria Piane, Sabrina Prudente, Nicola Migone, Mario DeMarchi, Alfredo Brusco and Luciana Chessa

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9129

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      Identification of novel SNPs in the interleukin 6 receptor gene (IL6R) (pages 450–451)

      Lyoung Hyo Kim, Hyo-Suk Lee, Yoon Jun Kim, Ji Hyun Jung, Jun Yeun Kim, Byung Lae Park and Hyoung Doo Shin

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9130

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      Bruton tyrosine kinase gene mutations in Argentina (page 451)

      Silvia Danielian, Jazmin El-Hakeh, Guillermo Basílico, Matías Oleastro, Sergio Rosenzweig, Guillermina Feldman, Liliana Berozdnik, Miguel Galicchio, Ángela Gallardo, Vera Giraudi, Diana Liberatore, Eva Maria Rivas and Marta Zelazko

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9131

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      Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients (pages 451–452)

      Katsunori Fujii, Yoichi Kohno, Katsuo Sugita, Mihoko Nakamura, Yoichi Moroi, Kazunori Urabe, Masutaka Furue, Masao Yamada and Toshiyuki Miyashita

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9132

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      Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain (page 452)

      Berta Campos, Orland Díez, Fabrice Odefrey, Montserrat Domènech, Virginie Moncoutier, José Ignacio Martínez-Ferrandis, Ana Osorio, Judith Balmaña, Alicia Barroso, María Eugenia Armengod, Javier Benítez, Carmen Alonso, Dominique Stoppa-Lyonnet, David Goldgar and Montserrat Baiget

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9133

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      Pathogenic mutations of the lipoprotein lipase gene in Chinese patients with hypertriglyceridemic type 2 diabetes (page 453)

      Tao Yang, Chi-Pui Pang, Man-Wo Tsang, Ching-Wan Lam, Priscilla M.K. Poon, Lisa Y.S. Chan, Xiang-Qian Wu, Brian Tomlinson and Larry Baum

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9134

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      Mutation analysis in 16 patients with mtDNA depletion (pages 453–454)

      R. Carrozzo, B. Bornstein, S. Lucioli, Y. Campos, P. de la Pena, N. Petit, C. Dionisi-Vici, L. Vilarinho, T. Rizza, E. Bertini, R. Garesse, F.M. Santorelli and J. Arenas

      Article first published online: 19 MAR 2003 | DOI: 10.1002/humu.9135

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