Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

1998

Volume 12, Issue 2

Pages 75–139

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Methods
    4. Mutations in Brief
    1. Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families (pages 75–82)

      Sunita K. Agarwal, Larisa V. Debelenko, Mary Beth Kester, Siradanahalli C. Guru, Pachiappan Manickam, Shodimu-Emmanuel Olufemi, Monica C. Skarulis, Christina Heppner, Judy S. Crabtree, Irina A. Lubensky, Zhengping Zhuang, Young S. Kim, Settara C. Chandrasekharappa, Francis S. Collins, Lance A. Liotta, Allen M. Spiegel, A. Lee Burns, Michael R. Emmert-Buck and Stephen J. Marx

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:2<75::AID-HUMU1>3.0.CO;2-T

    2. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: Two pathogenic mutations, V133E and C456F, in Japanese siblings (pages 83–88)

      Xiang-Qian Song, Toshiyuki Fukao, Hiroh Watanabe, Haruo Shintaku, Ken Hirayama, Sacha Kassovska-Bratinova, Naomi Kondo and Grant A. Mitchell

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:2<83::AID-HUMU2>3.0.CO;2-P

    3. Further delineation of the molecular pathology of Wilson disease in the Mediterranean population (pages 89–94)

      Georgios Loudianos, Valeria Dessì, Mario Lovicu, Andrea Angius, Annamaria Nurchi, Giacomo Carlo Sturniolo, Matilde Marcellini, Lucia Zancan, Patrizia Bragetti, Nejat Akar, Rasit Yagci, Angela Vegnente, Antonio Cao and Mario Pirastu

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:2<89::AID-HUMU3>3.0.CO;2-G

    4. Effects of a 9.6-kb deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNA (pages 95–102)

      Olaug K. Rødningen, Serena Tonstad, Leiv Ose, Kåre Berg and Trond P. Leren

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:2<95::AID-HUMU4>3.0.CO;2-E

    5. Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein (pages 103–113)

      JC States, ER McDuffie, SP Myrand, M McDowell and JE Cleaver

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6

    6. Arginine 302 mutations in the pyruvate dehydrogenase E1α subunit gene: Identification of further patients and in vitro demonstration of pathogenicity (pages 114–121)

      Lucy J. Otero, Ruth M. Brown and Garry K. Brown

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:2<114::AID-HUMU6>3.0.CO;2-#

  2. Methods

    1. Top of page
    2. Research Articles
    3. Methods
    4. Mutations in Brief
    1. Exons – Introns = Lexons: In-frame concatenation of exons by PCR (pages 122–127)

      Thérèse M. F. Tuohy and Joanna Groden

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:2<122::AID-HUMU7>3.0.CO;2-W

    2. A new set of primers for mutation analysis of the human PAX6 gene (pages 128–134)

      James Love, Richard Axton, Amanda Churchill, Veronica van Heyningen and Isabel Hanson

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:2<128::AID-HUMU8>3.0.CO;2-N

  3. Mutations in Brief

    1. Top of page
    2. Research Articles
    3. Methods
    4. Mutations in Brief
    1. Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family (page 135)

      DR Booth, JD Gillmore, MR Persey, SE Booth, KD Cafferty, GA Tennent, S Madhoo, SW Cochrane, TC Whitehead, G Pasvol and PN Hawkins

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:2<135::AID-HUMU9>3.0.CO;2-K

    2. Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy (page 135)

      Joshua T. Mendell, Shirly G. Panicker, Chang-Yong Tsao, Bo Feng, Zarife Sahenk, George A. Marzluf and Jerry R. Mendell

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:2<135::AID-HUMU10>3.0.CO;2-6

    3. A nonsense mutation (R242X) in the branched-chain α-keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine disease (page 136)

      Jeffrey Chinsky, Melissa Appel, Shlomo Almashanu, Paul Costeas, Nicholas Ambulos Jr. and Rivka Carmi

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:2<136::AID-HUMU11>3.0.CO;2-0

    4. Niemann Pick disease type A in Israeli Arabs: 677delT, a common novel single mutation (page 136)

      Iris Gluck, Marsha Zeigler, Ruth Bargal, Elena Schiff and Gideon Bach

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:2<136::AID-HUMU12>3.0.CO;2-Y

    5. Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY) (page 136)

      Barbara Guazzini, Davide Gaffi, Davide Mainieri, Giuseppe Multari, Renzo Cordera, Stefano Bertolini, Guido Pozza, Franco Meschi and Fabrizio Barbetti

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:2<136::AID-HUMU13>3.0.CO;2-V

    6. A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan syndrome (MfS) (page 137)

      Ulrich Grau, Hanns-Georg Klein, Christian Detter, Helmut Mair, Armin Welz, Dietrich Seidel and Bruno Reichart

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:2<137::AID-HUMU14>3.0.CO;2-P

    7. Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia (page 137)

      Daniel J. Klaus, Carol J. Gallione, Kara Anthony, Eric Y. Yeh, Jing Yu, Andreas Lux, David W. Johnson and Douglas A. Marchuk

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:2<137::AID-HUMU15>3.0.CO;2-M

    8. C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus (pages 137–138)

      Csaba Szalai, Dimitra Triga and Antal Czinner

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:2<137::AID-HUMU16>3.0.CO;2-J

    9. Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae (page 138)

      Sergej Feshchenko, Jürgen Brinckmann, Hartwig W. Lehmann, Hans-Georg Koch, Peter K. Müller and Sebastian Kügler

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:2<138::AID-HUMU17>3.0.CO;2-D

    10. Identification of novel PAX6 mutations in two families with bilateral aniridia (page 138)

      Martin Neuner-Jehle, Francis Munier, Alexandra Kobetz, Iman Sahly, Yves Uteza, André Mermoud, Daniel F. Schorderet, Jean-Louis Dufier and Marc Abitbol

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:2<138::AID-HUMU18>3.0.CO;2-A

    11. A novel homozygous nonsense mutation E135* in the type II 3β-hydroxysteroid dehydrogenase gene in a girl with salt-losing congenital adrenal hyperplasia (page 139)

      Suemi Marui, Isabel M. Torrealba, Alan J. Russell, Ana C. Latronico, Roger G. Sutcliffe and Berenice B. Mendonca

      Article first published online: 7 DEC 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:2<139::AID-HUMU19>3.0.CO;2-4

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