Human Mutation

Cover image for Human Mutation

1994

Volume 3, Issue 3

Pages fmi–fmi, 171–337

  1. Masthead

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

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030301

  2. Editorial

    1. Top of page
    2. Masthead
    3. Editorial
    4. Review Articles
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Erratum
    1. Editorial (page 171)

      R. G. H. Cotton and Haig H. Kazazian Jr.

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030302

  3. Review Articles

    1. Top of page
    2. Masthead
    3. Editorial
    4. Review Articles
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Erratum
    1. Detection of point mutations by solid-phase methods (pages 172–179)

      Ann-Christine Syvänen and Ulf Landegren

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030303

  4. Research Articles

    1. Top of page
    2. Masthead
    3. Editorial
    4. Review Articles
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Erratum
    1. Description and functional implications of a novel mutation in the sex-determining gene SRY (pages 200–204)

      Francis Poulat, Stephan Soullier, Catherine Gozé, Frédéric Heitz, Bernard Calas and Philippe Berta

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030305

    2. Mutations in PAX3 associated with waardenburg syndrome type I (pages 205–211)

      Clinton T. Baldwin, Nina R. Lipsky, Christopher F. Hoth, Tirza Cohen, Wilfred Mamuya and Aubrey Milunsky

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030306

    3. Infrequent mutation of the WT1 gene in 77 Wilms' tumors (pages 212–222)

      Dr. M. Gessler, A. König, K. Arden, P. Grundy, S. Orkin, S. Sallan, C. Peters, S. Ruyle, J. Mandell, F. Li, W. Cavenee and G. Bruns

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030307

    4. Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G[RIGHTWARDS ARROW]A, and 3667de14) (pages 223–230)

      Miguel Chillón, Teresa Casals, Javier Giménez, Virginia Nunes and Xavier Estivill

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030308

    5. Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy (pages 231–238)

      Metka Ravnik-Glavač, Damjan Glavač, Mila Chernick, Paul Di Sant'Agnese and Michael Dean

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030309

    6. Hb FM-Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing (pages 239–242)

      Richard D. W. Hain, David Chitayat, Robert Cooper, Elizabeth Bandler, Barry Eng, David H. K. Chui, John S. Waye and Melvin H. Freedman

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030310

    7. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness (pages 243–247)

      Fiona M. Reid, Guy A. Vernham and Howard T. Jacobs

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030311

    8. Allele frequency data for VNTR locus D17S79: Identification of an internal HaeIII polymorphism in the black population (pages 248–253)

      John S. Waye, Melanie Richard, George Carmody and Pamela J. Newall

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030312

    9. A single base mutation in the type II procollagen gene (COL2A1) that converts glycine α1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia (pages 261–267)

      P. Ritvaniemi, B. P. Sokolov, C. J. Williams, E. Considine, L. Yurgenev, E. M. Meerson, L. Ala-Kokko and D. J. Prockop

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030314

    10. Mutation analysis of 19 North American mucopolysaccharidosis type I patients: Identification of two additional frequent mutations (pages 275–282)

      Lorne A. Clarke, Paul V. Nelson, Cara L. Warrington, C. Phillip Morris, John J. Hopwood and Hamish S. Scott

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030316

    11. Loss of heterozygosity on chromosome 5 in sporadic ovarian carcinoma is a late event and is not associated with mutations in APC at 5q21–22 (pages 283–291)

      Gordon J. Allan, Sally Cottrell, John Trowsdale and William D. Foulkes

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030317

  5. Methods

    1. Top of page
    2. Masthead
    3. Editorial
    4. Review Articles
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Erratum
    1. A rapid and simple DNA fingerprinting method using RLFP and SSCP analysis of the hypervariable noncoding region of human mitochondrial DNA (pages 292–296)

      Elena A. Pushnova, Sofia N. Akhmedova, Sergey P. Shevtsov and Eugene I. Schwartz

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030318

  6. Mutation in Briefs

    1. Top of page
    2. Masthead
    3. Editorial
    4. Review Articles
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Erratum
    1. Nonsense mutation in the homeobox region of the aniridia gene (pages 297–300)

      Aruna Devi Martha, Robert E. Ferrell and Grady F. Saunders

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030319

    2. A novel deletion in exon 15 of the adenomatous polyposis coli gene in an Italian kindred (pages 301–304)

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

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030320

    3. A novel mutation at the splice junction of exon 9 of the APC gene in familial adenomatous polyposis (pages 305–308)

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

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030321

    4. A novel β-thalassemia mutation: Frameshift at codon 59 detected in an Italian carrier (pages 309–311)

      Alessandra Meloni, Maria Demurtas, Loredana Moi, Valeria Faà, Antonio Cao and Maria Cristina Rosatelli

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030322

    5. Phenylketonuria in China: Identification and characterization of three novel nucleotide substitutions in the human phenylalanine hydroxylase gene (pages 312–314)

      Jia Li, Randy C. Eisensmith, Tao Wang, Wilson H. Y. Lo, Shu-Zhen Huang, Yi-Tao Zeng, Li-Fang Yuan, Shen-Ru Liu and Savio L. C. Woo

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030323

    6. Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency (pages 315–317)

      Amrik Sahota, Ju Chen, Steven Bye, James Jaing, M. Berenyi, Gyorgy Fekete and Jay A. Tischfield

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030324

    7. The ornithine transcarbamylase gene: New “Private” mutations in four patients and study of a polymorphism (pages 318–320)

      Mendel Tuchman, Robert J. Plante, Yves Giguère and Bernard Lemieux

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030325

    8. Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa (pages 321–323)

      Gunnar Grüning, José M. Millan, Moritz Meins, Magdalena Beneyto, Manuel Caballero, Eckart Apfelstedt-Sylla, Rosabel Bosch, Eberhart Zrenner, Felix Prieto and Andreas Gal

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030326

    9. Substitution of glycine-172 by arginine in the α1 chain of type I collagen in a patient with osteogenesis imperfecta, type III (pages 324–326)

      Katrina Mackay, Anne De Paepe, Lieve Nuytinck and Raymond Dalgleish

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030327

    10. A cystic fibrosis patient with ΔF508, G542X and a deletion at the D7S8 locus (pages 327–329)

      Klaus Wagner, Ignaz Greil, Petra Schneditz, Michaela Pommer and Walter Rosenkranz

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030328

    11. Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA[RIGHTWARDS ARROW]G (pages 330–332)

      Dominique Bozon, Julian Zielenski, Frauke Rininsland and Lap-Chee Tsui

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030329

    12. A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH) (pages 333–336)

      Phuong T. Tieu, Kaushiki Menon and Elizabeth F. Neufeld

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030330

  7. Erratum

    1. Top of page
    2. Masthead
    3. Editorial
    4. Review Articles
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Erratum
    1. You have free access to this content
      Erratum (page 337)

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030331

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