Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

1997

Volume 9, Issue 5

Pages 383–476

  1. Mutation Updates

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Mutation Notes
    1. Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis (pages 383–387)

      Peiyi Y. Hu, E. Justin Lim, Jessica Ciccolella, Pietro Strisciuglio and William S. Sly

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<383::AID-HUMU1>3.0.CO;2-5

    2. Mutations in SRY and SOX9: Testis-determining genes (pages 388–395)

      Fergus J. Cameron and Andrew H. Sinclair

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<388::AID-HUMU2>3.0.CO;2-0

  2. Research Articles

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Mutation Notes
    1. Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of Familial Exudative Vitreoretinopathy (pages 396–401)

      Barkur S. Shastry, James F. Hejtmancik and Michael T. Trese

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<396::AID-HUMU3>3.0.CO;2-2

    2. Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency (pages 402–408)

      Heidi L. Rehm, Gustavo A. Gutiérrez-Espeleta, Rafael Garcia, Gerardo Jiménez, Umang Khetarpal, Janice M. Priest, Katherine B. Sims, Bronya J. B. Keats and Cynthia C. Morton

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<402::AID-HUMU4>3.0.CO;2-5

    3. Ornithine transcarbamylase deficiency: Ten new mutations and high proportion of de novo mutations in heterozygous females (pages 409–411)

      Elisabeth Oppliger Leibundgut, Sabina Liechti-Gallati, Jean-Pierre Colombo and Bendicht Wermuth

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<409::AID-HUMU5>3.0.CO;2-Z

    4. Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy (pages 412–417)

      Vesa Juvonen, Eeva Nikoskelainen, Tarja Lamminen, Maila Penttinen, Pertti Aula and Marja-Liisa Savontaus

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<412::AID-HUMU6>3.0.CO;2-5

    5. Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia (pages 418–425)

      Igor Vorřechovský, Liping Luo, Jens M. Hertz, Stig S. Frøland, Timo Klemola, Maurilia Fiorini, Isabella Quinti, Roberto Paganelli, Hulya Ozsahin, Lennart Hammarström, A. David B. Webster and C. I. Edvard Smith

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<418::AID-HUMU7>3.0.CO;2-#

    6. Analysis of the myoglobin gene in heart disease (pages 426–430)

      Eduardo Fernandez, Angie Duke, Irina Sevrioukova and Ralph V. Shohet

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<426::AID-HUMU8>3.0.CO;2-1

    7. (G586V) substitutions in the α1 and α2 chains of collagen I: Effect of α-chain stoichiometry on the phenotype of osteogenesis imperfecta? (pages 431–436)

      Allan M. Lund, Flemming Skovby and Marianne Schwartz

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<431::AID-HUMU9>3.0.CO;2-6

    8. Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia (pages 437–444)

      Henrik K. Jensen, Thomas G. Jensen, Ole Faergeman, Lillian G. Jensen, Brage S. Andresen, Morten J. Corydon, Per H. Andreasen, Peter S. Hansen, Finn Heath, Lars Bolund and Niels Gregersen

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<437::AID-HUMU10>3.0.CO;2-3

    9. Similar mutant frequencies observed between pairs of monozygotic twins (pages 445–451)

      John Curry, Gwyn Bebb, Joyce Moffat, Daniel Young, Magomed Khaidakov, Alan Mortimer and Barry W. Glickman

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<445::AID-HUMU11>3.0.CO;2-2

    10. Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion (pages 452–457)

      PJ Ainsworth, PK Chakraborty and R Weksberg

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<452::AID-HUMU12>3.0.CO;2-1

    11. Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlations in neurofibromatosis type 1? (pages 458–464)

      Marjon H. Cnossen, Mieke N. van der Est, Martijn H. Breuning, Christi J. van Asperen, Elisabeth J. Breslau-Siderius, Ans T. van der Ploeg, Arja de Goede-Bolder, Ans M. W. van den Ouweland, Dicky J. J. Halley and Martinus F. Niermeijer

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<458::AID-HUMU13>3.0.CO;2-1

  3. Methods

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Mutation Notes
    1. Scanning method of identify the molecular heterogeneity of δ-globin gene especially in δ-thalassemias: Detection of three novel substitutions in the promoter region of the gene (pages 465–472)

      Manoussos Papadakis, Elisavet Papapanagiotou and Afrodite Loutradi-Anagnostou

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<465::AID-HUMU14>3.0.CO;2-0

  4. Mutation Notes

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Mutation Notes
    1. A five-basepair deletion (7118 delTTTTA) identified within neurofibromatosis NF1 exon 39 (page 473)

      David I. Rodenhiser, Jack H. Jung, Jane M. R. Gillet, Ken Hovland, Joseph Andrews, Peter J. Ainsworth, Marion Coulter-Mackie and Shiva M. Singh

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<473::AID-HUMU15>3.0.CO;2-#

    2. Three novel point mutations in the dystrophin gene in DMD patients (pages 473–474)

      Adriana Lasa, Pia Gallano and Montserrat Baiget

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<473::AID-HUMU16>3.0.CO;2-#

    3. New nonsense mutation in the breast cancer-1 gene in a French site-specific breast cancer family (pages 474–475)

      V Laplace-Marieze, N Presneau, C Girodet, V Vidal, C Vaurs, P Rio and Y-J Bignon

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<474::AID-HUMU17>3.0.CO;2-#

    4. Recurrent COL3A1 mutation results in EDS IV or familial aneurysms (page 475)

      David W. Anderson, Smita Thakker-Varia and Catherine A. Stolle

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<475::AID-HUMU18>3.0.CO;2-#

    5. A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease (pages 475–476)

      Chiaki Kawanishi, Hitoshi Osaka, Kenji Owa, Ken Inoue, Tomohiro Miyakawa, Hideki Onishi, Yoshiteru Yamada, Kyoko Suzuki, Seiji Kimura and Kenji Kosaka

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<475::AID-HUMU19>3.0.CO;2-#

    6. Identification of a novel somatic mutation in the RET proto-oncogene in a patient with sporadic medullary thyroid carcinoma (page 476)

      Xavier Matias-Guiu, Elena Lagarda, Monica Calaf, Arturo Azpiroz, Alberto De Leiva, Jaime Prat and Montserrat Baiget

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1997)9:5<476::AID-HUMU20>3.0.CO;2-Z

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