Human Mutation

Cover image for Human Mutation

1995

Volume 5, Issue 2

Pages fmi–fmi, 107–190

  1. Masthead

    1. Top of page
    2. Masthead
    3. Review Articles
    4. Mutation Updates
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    1. Masthead (page fmi)

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050201

  2. Review Articles

    1. Top of page
    2. Masthead
    3. Review Articles
    4. Mutation Updates
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
  3. Mutation Updates

    1. Top of page
    2. Masthead
    3. Review Articles
    4. Mutation Updates
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    1. Molecular basis of β-ketothiolase deficiency: Mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme a thiolase gene (pages 113–120)

      Toshiyuki Fukao, Seiji Yamaguchi, Tadao Orii and Takashi Hashimoto

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050203

  4. Research Articles

    1. Top of page
    2. Masthead
    3. Review Articles
    4. Mutation Updates
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    1. Concentration of mutations causing schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen (pages 121–125)

      Iain McIntosh, Margaret H. Abbott and Clair A. Francomano

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050204

    2. Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency (pages 126–130)

      Benoit Barbat, Any Bogyo, Marie-Charles Raux-Demay, Frédéarique Kuttenn, Joelle Boué, Brigitte Simon-Bouy, Jean-Louis Serre, André Boué and Etienne Mornet

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050205

    3. Preliminary investigation of mutations in 21-hydroxylase gene in patients with congenital adrenal hyperplasia in Russia (pages 131–136)

      Oleg Vadimovich Evgrafov, Alexandr Vladimirovich Polyakov, Irina Genrikhovna Dzenis and Vladimir Anatol'evich Baharev

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050206

    4. Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews (pages 137–143)

      Joël Zlotogora, Gideon Bach, Claudia Böusenberg, Ygal Barak, Kurt Von Figura and Volkmar Gieselmann

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050207

    5. Multiplex PCR analysis and genotype–phenotype correlations of frequent APC mutations (pages 144–152)

      Alessandro Cama, Raffaele Palmirotta, Maria Cristina Curia, Diana L. Esposito, Annalisa Ranieri, Ferdinando Ficari, Rosa Valanzano, Pasquale Battista, Andrea Modesti, Francesco Tonelli and Renato Mariani-Costantini

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050208

  5. Methods

    1. Top of page
    2. Masthead
    3. Review Articles
    4. Mutation Updates
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    1. Fluorescence-based oligonucleotide ligation assay for analysis of cystic fibrosis transmembrane conductance regulator gene mutations (pages 153–165)

      Faye A. Eggerding, David M. Iovannisci, Eleanor Brinson, Paul Grossman and Emily S. Winn-Deen

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050209

    2. Optimisation and properties of a UHG for genotyping of hemoglobins S and C (pages 166–172)

      Nigel Wood, Graham Standen, John Old and Jeffrey Bidwell

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050210

  6. Mutation in Briefs

    1. Top of page
    2. Masthead
    3. Review Articles
    4. Mutation Updates
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    1. A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G[RIGHTWARDS ARROW]T] detected by a PCR-based diagnostic test (pages 173–174)

      David H. Brown, Barbara L. Triggs-Raine, Matthew J. McGinniss and Michael M. Kaback

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050211

    2. Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV (pages 179–181)

      Gerard Tromp, Anne De Paepe, Lieve Nuytinck, Swarna Madhatheri and Helena Kuivaniemi

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050213

    3. Identification of three different α-thalassemic haplotypes: —α3.7, (— —)MED and αHph α in the same Algerian family (pages 182–183)

      Tristan Leclerc, Djamel Guetarni, Agnès Bernet, Pierre Colonna, Jacqueline Godet and François Morlé

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050214

    4. Novel frameshift mutation in exon 4 of CFTR gene (pages 184–185)

      T. Ivaschenko, M. Bakay and V. Baranov

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050215

    5. Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease (pages 186–187)

      H. A. Özkara, B. R. Akerman, G. Ciliv, M. Topçu, Y. Renda and R. A. Gravel

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050216

    6. Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia (pages 188–190)

      Belén Pérez, Lourdes R. Desviat and Magdalena Ugarte

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050217

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