Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

March 2000

Volume 15, Issue 3

Pages 209–299

  1. Mutation Updates

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Meeting Report
    5. Mutations in Brief
    6. Mutation and Polymorphism Reports
    1. Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency (pages 209–219)

      Willy Lissens, Linda De Meirleir, Sara Seneca, Inge Liebaers, Garry K. Brown, Ruth M. Brown, Michinori Ito, Etsuo Naito, Yasuhiro Kuroda, Douglas S. Kerr, Isaiah D. Wexler, Mulchand S. Patel, Brian H. Robinson and Agnieszka Seyda

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K

    2. Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes (pages 220–227)

      Wim Wuyts and Wim Van Hul

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K

    3. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA) (pages 228–237)

      Brunhilde Wirth

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9

  2. Research Articles

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Meeting Report
    5. Mutations in Brief
    6. Mutation and Polymorphism Reports
    1. A missense mutation in the OCTN2 gene associated with residual carnitine transport activity (pages 238–245)

      Yuhuan Wang, Michelle A. Kelly, Tina M. Cowan and Nicola Longo

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<238::AID-HUMU4>3.0.CO;2-3

    2. Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis (pages 246–253)

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

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<246::AID-HUMU5>3.0.CO;2-#

    3. Phenylketonuria and hyperphenylalaninemia in eastern Germany: A characteristic molecular profile and 15 novel mutations (pages 254–260)

      Julia B. Hennermann, Barbara Vetter, Claudia Wolf, Elke Windt, Peter Bührdel, Jörg Seidel, Eberhard Mönch and Andreas E. Kulozik

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<254::AID-HUMU6>3.0.CO;2-W

    4. Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia (pages 261–272)

      Wilfried Kugler, Christian Willaschek, Christiane Holtz, Andreas Ohlenbusch, Petra Laspe, Regina Krügener, Hilary Muirhead, Werner Schröter and Max Lakomek

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<261::AID-HUMU7>3.0.CO;2-T

    5. Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1) (pages 273–279)

      Tarja Salonen, Irma Järvelä, Leena Peltonen and Anu Jalanko

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<273::AID-HUMU8>3.0.CO;2-L

    6. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria (pages 280–287)

      Sahar Sibani, Benedicte Christensen, Erin O'Ferrall, Irfan Saadi, François Hiou-Tim, David S. Rosenblatt and Rima Rozen

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<280::AID-HUMU9>3.0.CO;2-I

  3. Meeting Report

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Meeting Report
    5. Mutations in Brief
    6. Mutation and Polymorphism Reports
    1. 7th International HUGO Mutation Database Meeting, October 19, 1999, San Francisco, U.S.A. (pages 288–292)

      Ourania Horaitis and Richard G.H. Cotton

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<288::AID-HUMU10>3.0.CO;2-F

  4. Mutations in Brief

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Meeting Report
    5. Mutations in Brief
    6. Mutation and Polymorphism Reports
    1. You have free access to this content
      Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia (page 293)

      A. Taillandier, E. Cozien, F. Muller, Y. Merrien, E. Bonnin, C. Fribourg, B. Simon-Bouy, J.L. Serre, E. Bieth, R. Brenner, M.P. Cordier, S. De Bie, F. Fellmann, P. Freisinger, V. Hesse, R.C.M. Hennekam, D. Josifova, L. Kerzin-Storrar, N. Leporrier, M.T. Zabot and E. Mornet

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<293::AID-HUMU11>3.0.CO;2-Q

    2. You have free access to this content
      Mutation 985A>G in the MCAD gene shows low incidence in Estonian population (pages 293–294)

      Hardo Lilleväli, Külli Margus, Katrin Õunap and Andres Metspalu

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<293::AID-HUMU12>3.0.CO;2-N

    3. You have free access to this content
      Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease (page 294)

      Miguel A. Martín, Juan C. Rubio, Yolanda Campos, Juan Vílchez, Ana Cabello and Joaquín Arenas

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<294::AID-HUMU13>3.0.CO;2-H

    4. You have free access to this content
      Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia (pages 294–295)

      Jian Wang and Robert A. Hegele

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<294::AID-HUMU14>3.0.CO;2-E

    5. You have free access to this content
      High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia (page 295)

      T.V. Pogoda, I.N. Krakhmaleva, N.A. Lipatova, N.I. Shakhovskaya, S.S. Shishkin and S.A. Limborska

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<295::AID-HUMU15>3.0.CO;2-8

    6. You have free access to this content
      IDDM7 links to insulin-dependent diabetes mellitus in Danish multiplex families but linkage is not explained by novel polymorphisms in the candidate gene GALNT3 (pages 295–296)

      Ole P. Kristiansen, Flemming Pociot, Eric P. Bennett, Henrik Clausen, Jesper Johannesen, Jørn Nerup and Thomas Mandrup-Poulsen

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<295::AID-HUMU16>3.0.CO;2-5

    7. You have free access to this content
      PCR diagnosis of X-linked ichthyosis: Identification of a novel mutation (E560P) of the steroid sulfatase gene (page 296)

      Teruo Sugawara, Hiroshi Shimizu, Nobuhiko Hoshi, Yuko Fujimoto, Ayako Nakajima and Seiichiro Fujimoto

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<296::AID-HUMU17>3.0.CO;2-#

    8. You have free access to this content
      Various AGC repeat numbers in the coding region of the human transcription factor gene E2F-4 (pages 296–297)

      Xiaoling Zhong, Hiromichi Hemmi, Junichi Koike, Kazunori Tsujita and Hiroyuki Shimatake

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<296::AID-HUMU18>3.0.CO;2-X

  5. Mutation and Polymorphism Reports

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Meeting Report
    5. Mutations in Brief
    6. Mutation and Polymorphism Reports
    1. The Arg1075His substitution in the FBN1 gene is clinically innocent for Marfan syndrome (page 298)

      Masahiko Ikebuchi, Toshiyuki Yamamoto, Hiroki Chikumi, Yoshiyuki Tanaka, Eiji Nanba, Hiroaki Kuroda and Shigetsugu Ohgi

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<298::AID-HUMU19>3.0.CO;2-O

    2. Polymorphism (g2035C>T) in the amelogenin gene (page 298)

      P.S. Hart, A.C. Vlaservich, T.C. Hart and J.T. Wright

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<298::AID-HUMU20>3.0.CO;2-D

    3. A novel DNA polymorphism (4886C>T) in the human LCAT gene (page 298)

      Delia Recalde, Ana Cenarro, Fernando Civeira, Angel-Luis Garcia-Otin and Miguel Pocovi

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<298::AID-HUMU21>3.0.CO;2-A

    4. A novel missense mutation (R712L) adjacent to the “active thiol” region of the cardiac β-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family (pages 298–299)

      Sadayappan Sakthivel, Pulavelil Kurian Joseph, Jagan Mohan Tharakan, Hans-Peter Vosberg and Chellam Rajamanickam

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<298::AID-HUMU22>3.0.CO;2-7

    5. Identification of a novel large F9 gene mutation—An insertion of an Alu repeated DNA element in exon e of the factor 9 gene (page 299)

      K. Wulff, H. Gazda, W. Schröder, R. Robicka-Milewska and F.H. Herrmann

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<299::AID-HUMU23>3.0.CO;2-1

    6. Identification of a new polymorphism (c134G>A) in the exon 2 of the myelin protein zero gene (page 299)

      M. Muglia, A. Toscano, A.L. Gabriele, A. Magariello, A. Patitucci, F.L. Conforti, R. Mazzei, C. Rodolico, A. Gambardella and A. Quattrone

      Article first published online: 10 FEB 2000 | DOI: 10.1002/(SICI)1098-1004(200003)15:3<299::AID-HUMU24>3.0.CO;2-Z

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