Human Mutation

Cover image for Human Mutation

1999

Volume 13, Issue 2

Pages 87–174

  1. Review Articles

    1. Top of page
    2. Review Articles
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    6. Mutation and Polymorphism Reports
    1. Human genetic diseases of proteolysis (pages 87–98)

      Gregory J. Kato

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<87::AID-HUMU1>3.0.CO;2-K

    2. Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism (pages 99–115)

      William S. Oetting and Richard A. King

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C

  2. Research Articles

    1. Top of page
    2. Review Articles
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    6. Mutation and Polymorphism Reports
    1. Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: Evidence for phenotypic differences in cases with and without identified mutation (pages 116–123)

      Monica Giarola, Lisa Stagi, Silvano Presciuttini, Patrizia Mondini, Maria T. Radice, Paola Sala, Marco A. Pierotti, Lucio Bertario and Paolo Radice

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<116::AID-HUMU3>3.0.CO;2-2

    2. Detection of mutations in COL4A5 in patients with Alport Syndrome (pages 124–132)

      Kate E. Plant, Peter M. Green, David Vetrie and Frances A. Flinter

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<124::AID-HUMU4>3.0.CO;2-Z

    3. Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity (pages 133–140)

      Andreas R. Janecke, Moritz Meins, Mojy Sadeghi, Kathrin Grundmann, Eckart Apfelstedt-Sylla, Eberhart Zrenner, Thomas Rosenberg and Andreas Gal

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<133::AID-HUMU5>3.0.CO;2-U

    4. Identification of a 5′ splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3) (pages 141–145)

      Katherine L. Dry, Forbes D.C. Manson, Alan Lennon, Arthur A.B. Bergen, Dieuwke B. Van Dorp and Alan F. Wright

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<141::AID-HUMU6>3.0.CO;2-Q

    5. The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor (pages 146–153)

      Angela S. Barbosa, Charalambos G. Hadjiathanasiou, Charalambos Theodoridis, Astéroula Papathanasiou, Attila Tar, Miklós Merksz, Borbála Györvári, Charles Sultan, Robert Dumas, Francis Jaubert, Patrick Niaudet, Carlos A. Moreira-Filho, Corinne Cotinot and Marc Fellous

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<146::AID-HUMU7>3.0.CO;2-I

    6. A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations (pages 154–159)

      Alison T. Merryweather-Clarke, Henrik Siimonsen, Jeremy D. Shearman, Jennifer J. Pointon, Bent Nørgaard-Pedersen and Kathryn J.H. Robson

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<154::AID-HUMU8>3.0.CO;2-E

    7. Identification of twenty-one new mutations in the factor IX gene by SSCP analysis (pages 160–165)

      J.M. Montejo, M. Magallón, E. Tizzano and J. Solera

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<160::AID-HUMU9>3.0.CO;2-C

  3. Methods

    1. Top of page
    2. Review Articles
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    6. Mutation and Polymorphism Reports
    1. A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs (pages 166–169)

      V. Strelnikov, M. Nemtsova, G. Chesnokova, N. Kuleshov and D. Zaletayev

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<166::AID-HUMU10>3.0.CO;2-X

  4. Mutations in Brief

    1. Top of page
    2. Review Articles
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    6. Mutation and Polymorphism Reports
    1. You have free access to this content
      A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers (page 170)

      Andréa L. Sertié, Christina Brahe and M. Rita Passos-Bueno

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<170::AID-HUMU11>3.0.CO;2-A

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      Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy (page 170)

      Makoto Ikezawa, Ichizo Nishino, Yu-ichi Goto, Teruhisa Miike and Ikuya Nonaka

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<170::AID-HUMU12>3.0.CO;2-7

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      Detection of protein truncating mutations in exons 1-14 of the APC gene using an in vivo fusion protein assay (pages 170–171)

      C. Andreutti-Zaugg, A. Couturier, P. Chappuis and P. Hutter

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<170::AID-HUMU13>3.0.CO;2-4

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      Identification of eleven novel tumor-associated e-cadherin mutations (page 171)

      Karl-Friedrich Becker, Ulrike Reich, Christina Schott, Ingrid Becker, Geert Berx, Frans van Roy and Heinz Höfler

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<171::AID-HUMU14>3.0.CO;2-Z

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      Identification of the mutation in the alkaptonuria mouse model (page 171)

      Kara Manning, José M. Fernández-Cañón, Xavier Montagutelli and Markus Grompe

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<171::AID-HUMU15>3.0.CO;2-W

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      Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia (pages 171–172)

      A. Taillandier, L. Zurutuza, F. Muller, B. Simon-Bouy, J.L. Serre, L. Bird, R. Brenner, O. Boute, J. Cousin, D. Gaillard, P.H. Heidemann, B. Steinmann, M. Wallot and E. Mornet

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<171::AID-HUMU16>3.0.CO;2-T

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      Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis (page 172)

      Selma F. Witchel, Rhonda Smith and Makiko Suda-Hartman

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<172::AID-HUMU17>3.0.CO;2-N

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      A novel 8-bp insertion in codon 281 of p53 in a patient with acute lymphoblastic leukaemia and 2 separate leukaemic clones (page 172)

      Raymond K.B. Dang, Robert S. Anthony, Jenny I.O. Craig and Alastair C. Parker

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<172::AID-HUMU18>3.0.CO;2-K

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      Glycogen storage disease type Ia: Four novel mutations (175delGG, R170X, G266V and V338F) identified (page 173)

      Jan Peter Rake, Annelies M. ten Berge, Edwin Verlind, Gepke Visser, Klary E. Niezen-Koning, Charles H.C.M. Buys, G. Peter A. Smit and Hans Scheffer

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU19>3.0.CO;2-E

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      Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement (page 173)

      Luigi Picci, Marilena Cameran, Paola Olante, Franco Zacchello and Maurizio Scarpa

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU20>3.0.CO;2-3

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      Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure (page 173)

      Christèle Dubourg, Sylvie Odent, Patricia Fergelot, Jean-Yves Le Gall, Véronique David and Martine Blayau

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU21>3.0.CO;2-0

  5. Mutation and Polymorphism Reports

    1. Top of page
    2. Review Articles
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    6. Mutation and Polymorphism Reports
    1. Identification of a mutation in the human raloxifene response element of the transforming growth factor-β 3 gene (page 174)

      Ki Ok Han, Young Soon Kang, In Gul Moon, Ho Yeon Chung, Hyun Koo Yoon, In Kwon Han, In Myung Yang and Young Kil Choi

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<174::AID-HUMU22>3.0.CO;2-V

    2. Three novel polymorphisms in the gene responsible for the Hermansky-Pudlak syndrome (page 174)

      Scott C. Wildenberg, James P. Fryer, William S. Oetting and Richard A. King

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<174::AID-HUMU23>3.0.CO;2-S

    3. Novel single base polymorphisms and rare sequence variants in the laminin α2-chain coding region detected by RNA/SSCP analysis (page 174)

      Shirly G. Panicker, Joshua T. Mendell, Lei Chen, Bo Feng, Zarife Sahenk, George A. Marzluf, Anthony A. Amato and Jerry R. Mendell

      Article first published online: 6 APR 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:2<174::AID-HUMU24>3.0.CO;2-P

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