Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

June 2000

Volume 15, Issue 6

Pages 489–585

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Methods
    4. Mutations in Brief
    5. Mutation and Polymorphism Reports
    1. Twenty two novel mutations of the factor VII gene in factor VII deficiency (pages 489–496)

      Karin Wulff and Falko H. Herrmann

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<489::AID-HUMU1>3.0.CO;2-J

    2. Analysis of CDKN1C in Beckwith Wiedemann Syndrome (pages 497–508)

      Elizabeth Algar, Samantha Brickell, Gillian Deeble, David Amor and Peter Smith

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<497::AID-HUMU2>3.0.CO;2-F

    3. Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients (pages 509–521)

      Daniel S. Warren, Brian D. Wolfe and Stephen J. Gould

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#

    4. Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations (pages 522–532)

      M.E. Rubio-Gozalbo, K.P. Dijkman, L.P. van den Heuvel, R.C.A. Sengers, U. Wendel and J.A.M. Smeitink

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<522::AID-HUMU4>3.0.CO;2-Y

    5. A novel Sta glycophorin produced via gene conversion of pseudoexon III from glycophorin E to glycophorin A gene (pages 533–540)

      Cheng-Han Huang, Ying Chen and Olga O. Blumenfeld

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<533::AID-HUMU5>3.0.CO;2-R

    6. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects (pages 541–555)

      Ludwine M. Messiaen, Tom Callens, Geert Mortier, Diane Beysen, Ina Vandenbroucke, Nadine Van Roy, Frank Speleman and Anne De Paepe

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N

  2. Methods

    1. Top of page
    2. Research Articles
    3. Methods
    4. Mutations in Brief
    5. Mutation and Polymorphism Reports
    1. A comparison of fluorescent SSCP and denaturing HPLC for high throughput mutation scanning (pages 556–564)

      L.A. Ellis, C.F. Taylor and G.R. Taylor

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<556::AID-HUMU7>3.0.CO;2-C

    2. Higher resolution microplate array diagonal gel electrophoresis: Application to a multiallelic minisatellite (pages 565–576)

      Sandra D. O'Dell, Xiao-he Chen and Ian N.M. Day

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<565::AID-HUMU8>3.0.CO;2-7

  3. Mutations in Brief

    1. Top of page
    2. Research Articles
    3. Methods
    4. Mutations in Brief
    5. Mutation and Polymorphism Reports
    1. You have free access to this content
      Identification of 5 novel mutations in the AGXT gene (page 577)

      Odile Basmaison, Marie-Odile Rolland, Pierre Cochat and Dominique Bozon

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<577::AID-HUMU9>3.0.CO;2-#

    2. You have free access to this content
      A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children (page 577)

      A. Tessa, A. Simonati, A. Tavoni, E. Bertini and F.M. Santorelli

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<577::AID-HUMU10>3.0.CO;2-Z

    3. You have free access to this content
      Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB (ERCC3) in Polish population (pages 577–578)

      Dorota Butkiewicz, Marek Rusin, Curtis C. Harris and Mieczyslaw Chorazy

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<577::AID-HUMU11>3.0.CO;2-W

    4. You have free access to this content
      Fanconi anemia A due to a novel frameshift mutation in hotspot motifs: Lack of FANCA protein (page 578)

      Gunay Balta, Johan P. de Winter, Hulya Kayserili, Jan C. Pronk, Jan C. Pronk and Hans Joenje

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<578::AID-HUMU12>3.0.CO;2-Q

    5. You have free access to this content
      Spectrum of COL4A5 mutations in Finnish Alport syndrome patients (page 579)

      Paula Martin, Niina Heiskari, Heli Pajari, Carola Grönhagen-Riska, Helena Kääriäinen, Olli Koskimies and Karl Tryggvason

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<579::AID-HUMU13>3.0.CO;2-K

    6. You have free access to this content
      Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency (pages 579–580)

      Miguel A. Martín, Juan C. Rubio, Pilar del Hoyo, Alberto García, Fernando Bustos, Yolanda Campos, Ana Cabello, José M. Culebras and Joaquín Arenas

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<579::AID-HUMU14>3.0.CO;2-H

    7. You have free access to this content
      Novel frameshift mutations in the RP2 gene and polymorphic variants (page 580)

      Dawn L. Thiselton, Ilaria Zito, Catherine Plant, Marcelle Jay, Shirley V. Hodgson, Alan C. Bird, Shomi S. Bhattacharya and Alison J. Hardcastle

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<580::AID-HUMU15>3.0.CO;2-3

    8. You have free access to this content
      Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects (pages 580–581)

      Päivi Laitinen, Heidi Fodstad, Kirsi Piippo, Heikki Swan, Lauri Toivonen, Matti Viitasalo, Jaakko Kaprio and Kimmo Kontula

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<580::AID-HUMU16>3.0.CO;2-0

    9. You have free access to this content
      Novel allele containing a 190C>T nonsynonymous substitution in the N-acetyltransferase (NAT2) gene (page 581)

      Kaori Shishikura, Hirohiko Hohjoh and Katsushi Tokunaga<P

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<581::AID-HUMU17>3.0.CO;2-V

  4. Mutation and Polymorphism Reports

    1. Top of page
    2. Research Articles
    3. Methods
    4. Mutations in Brief
    5. Mutation and Polymorphism Reports
    1. Identification of a novel mutation (c279delC) and a polymorphism (c291C>G) in the von Hippel-Lindau gene in Italian patients (page 582)

      Patrick S. Moore, Davide Antonello, Guido Martignoni, Chiara Racchini, Maurizio Ventrucci and Aldo Scarpa

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<582::AID-HUMU18>3.0.CO;2-P

    2. A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia (page 582)

      Nicola J. Murton, Ishtiaq Rehman, Graeme C.M. Black, Chris F. Inglehearn and Amanda J. Churchill

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<582::AID-HUMU19>3.0.CO;2-M

    3. Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1) (page 582)

      R. Perrichot, B. Mercier, A. Carre, J. Cledes and C. Ferec

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<582::AID-HUMU20>3.0.CO;2-B

    4. Human beta defensin 1 gene: Six new variants (pages 582–583)

      Serena Vatta, Michele Boniotto, Elena Bevilacqua, Anna Belgrano, Doroti Pirulli, Sergio Crovella and Antonio Amoroso

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<582::AID-HUMU21>3.0.CO;2-8

    5. A novel complex mutation in exon 8 of RB1 in a case of isolated bilateral retinoblastoma (page 583)

      Javier Alonso, Purificación García-Miguel, José Abelairas and Angel Pestaña

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<583::AID-HUMU22>3.0.CO;2-2

    6. Identification of a polymorphism (D366H) in the endoglin gene in Chinese (page 583)

      Wei-De Lin, Fuu-Jen Tsai, Cheng-Chun Lee and Jer-Yuarn Wu

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<583::AID-HUMU23>3.0.CO;2-#

    7. W179R: A novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa (pages 583–584)

      Corinne Bareil, Valérie Delague, Bernard Arnaud, Jacques Demaille, Christian Hamel and Mireille Claustres

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<583::AID-HUMU24>3.0.CO;2-X

    8. Novel cardiac β-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy (page 584)

      Ryuichiro Anan, Hirohisa Shono and Chuwa Tei

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<584::AID-HUMU25>3.0.CO;2-R

    9. Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa (page 584)

      Li Liu, Lei Jin, Mugen Liu, Yong Wei, Xuejun Wu, Ye Liu, Youe Liu, Honghai Wang, Renyuan Chu and Jianhua Chai

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<584::AID-HUMU26>3.0.CO;2-O

    10. New missense mutation (G626V) in the predicted selectivity filter of the HERG channel associated with familial long QT syndrome (page 584)

      Sabine Jahr, Thorsten Lewalter, Rolf-Dieter Hesch, Berndt Lüderitz and Sabine Englisch

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<584::AID-HUMU27>3.0.CO;2-L

    11. Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome (pages 584–585)

      Abdelhamid Barakat, Mouna Ababou, Rosine Onclercq, Stéphanie Dutertre, ElBekkay Chadli, Nezha Hda, Abdellah Benslimane and Mounira Amor-Guéret

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<584::AID-HUMU28>3.0.CO;2-I

    12. Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia (page 585)

      Kyeong-Man Hong, Si-Houn Hahn and Moon-Kee Paik

      Article first published online: 31 MAY 2000 | DOI: 10.1002/1098-1004(200006)15:6<585::AID-HUMU29>3.0.CO;2-C

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