Human Mutation

Cover image for Human Mutation

May 2001

Volume 17, Issue 5

Pages 357–437

  1. Mutation Updates

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Erratum
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. WFS1/wolframin mutations, Wolfram syndrome, and associated diseases (pages 357–367)

      Farhat Khanim, Jeremy Kirk, Farida Latif and Timothy G. Barrett

      Version of Record online: 16 APR 2001 | DOI: 10.1002/humu.1110

    2. Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome (pages 368–373)

      Olga Beltcheva, Paula Martin, Ulla Lenkkeri and Karl Tryggvason

      Version of Record online: 16 APR 2001 | DOI: 10.1002/humu.1111

    3. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency (pages 374–381)

      Marie O. Péquignot, Runu Dey, Massimo Zeviani, Valeria Tiranti, Catherine Godinot, Alain Poyau, Caroline Sue, Salvatore Di Mauro, Marc Abitbol and Cécile Marsac

      Version of Record online: 16 APR 2001 | DOI: 10.1002/humu.1112

  2. Databases

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Erratum
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. Variable expressivity and mutation databases: The androgen receptor gene mutations database (pages 382–388)

      Bruce Gottlieb, Lenore K. Beitel and Mark A. Trifiro

      Version of Record online: 16 APR 2001 | DOI: 10.1002/humu.1113

  3. Rapid Communications

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Erratum
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. You have free access to this content
      Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers (pages 389–396)

      Steven M. Lipkin, Victoria Wang, Dan L. Stoler, Garth R. Anderson, Ilan Kirsch, Don Hadley, Henry T. Lynch and Francis S. Collins

      Version of Record online: 16 APR 2001 | DOI: 10.1002/humu.1114

    2. Mucolipidosis type IV: Novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population (pages 397–402)

      Ruth Bargal, Nili Avidan, Tzvia Olender, Edna Ben Asher, Marcia Zeigler, Annick Raas-Rothschild, Ayala Frumkin, Omer Ben-Yoseph, Yechiel Friedlender, Doron Lancet and Gideon Bach

      Version of Record online: 16 APR 2001 | DOI: 10.1002/humu.1115

  4. Research Articles

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Erratum
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype–phenotype correlations (pages 403–411)

      Colleen Campbell, Robert A. Cucci, Sai Prasad, Glenn E. Green, J. Bradley Edeal, Chad E. Galer, Lawrence P. Karniski, Val C. Sheffield and Richard J.H. Smith

      Version of Record online: 16 APR 2001 | DOI: 10.1002/humu.1116

    2. Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications (pages 412–422)

      Javier Alonso, Purificación García-Miguel, José Abelairas, Marta Mendiola, Enric Sarret, M. Teresa Vendrell, Aurora Navajas and Angel Pestaña

      Version of Record online: 16 APR 2001 | DOI: 10.1002/humu.1117

  5. Methods

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Erratum
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
  6. Erratum

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Erratum
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. You have free access to this content
  7. Mutations in Brief

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Erratum
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. You have free access to this content
      Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection (page 432)

      Kate A. O’Donnell, Orna Tighe, Charles O’Neill, Eileen Naughten, Philip D. Mayne, Tommie V. McCarthy, Patrick Vaughan and David T. Croke

      Version of Record online: 16 APR 2001 | DOI: 10.1002/humu.1120

    2. You have free access to this content
      Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece (pages 432–433)

      George Miltiadous, Moses Elisaf, Helen Bairaktari, Stavroulla L. Xenophontos, Panayiotis Manoli and Marios A. Cariolou

      Version of Record online: 16 APR 2001 | DOI: 10.1002/humu.1121

    3. LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy (page 433)

      Rosario Liguori, Anna Monica Bianco, Anagnostis Argiriou, Paolo Pauciullo, Alessandro Giannino, Paolo Rubba and Vincenzo De Simone

      Version of Record online: 16 APR 2001 | DOI: 10.1002/humu.1122

    4. You have free access to this content
      Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness families (pages 433–434)

      Zahid H. Shah, Marina Toompuu, Terhi Hakkinen, Anja T. Rovio, Conny van Ravenswaay, Els M.R. De Leenheer, Richard J.H. Smith, Frans P.M. Cremers, Cor W.R.J. Cremers and Howard T. Jacobs

      Version of Record online: 16 APR 2001 | DOI: 10.1002/humu.1123

    5. You have free access to this content
      Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV (page 434)

      L.M. Ward, L. Lalic, P.J. Roughley and F.H. Glorieux

      Version of Record online: 16 APR 2001 | DOI: 10.1002/humu.1124

    6. You have free access to this content
      Nine novel APC mutations in Italian FAP patients (pages 434–435)

      N. Resta, A. Stella, F. Susca, M. Montera, M. Gentile, F. Cariola, F. Prete, R. Tenconi, M.G. Tibiletti, G. Logrieco, T. Mattina, G. Andriulli, M.L. Caruso, P. Fiorente, S. Russo, O. Caputi-Jambrenghi, C. Mareni and G. Guanti

      Version of Record online: 16 APR 2001 | DOI: 10.1002/humu.1125

    7. You have free access to this content
    8. You have free access to this content
      RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa (page 436)

      Larry Baum, Wai-Man Chan, Kwun-Yan Yeung, Dennis S.C. Lam, Alvin K.H. Kwok and Chi-Pui Pang

      Version of Record online: 16 APR 2001 | DOI: 10.1002/humu.1127

  8. Mutation and Polymorphism Reports

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Erratum
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. A novel HEXA mutation [1393G>A (D465N)] in a Mexican Tay-Sachs disease patient (page 437)

      Adriana Álvarez-Rodríguez, Barbara Triggs-Raine, Patricio Barros-Núñez and Claudina Medina Lozano

      Version of Record online: 16 APR 2001 | DOI: 10.1002/humu.1128

    2. Five novel single nucleotide polymorphisms of the RB1 gene (g.5625T>C, g.70169T>G, g.76875A>T, g.78026delA, and g.150072T>C) in retinoblastoma patients (page 437)

      Javier Alonso, Carlos Moreno, Andres López, Marta Mendiola, Purificación García-Miguel, José Abelairas, Enric Sarret, M. Teresa Vendrell, Aurora Navajas and Angel Pestaña

      Version of Record online: 16 APR 2001 | DOI: 10.1002/humu.1129

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