Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

December 1999

Volume 14, Issue 6

Pages 451–545

  1. Meeting Report

    1. Top of page
    2. Meeting Report
    3. Mutation Updates
    4. Rapid Communication
    5. Research Articles
    6. Letter to the Editor
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Fifth International Mutation Detection Workshop, May 13–16, 1999, Vicoforte, Italy (pages 451–453)

      Irma Dianzani, Ulf Landegren, Clara Camaschella, Alberto Ponzone, Alberto Piazza and Richard G.H. Cotton

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<451::AID-HUMU1>3.0.CO;2-N

  2. Mutation Updates

    1. Top of page
    2. Meeting Report
    3. Mutation Updates
    4. Rapid Communication
    5. Research Articles
    6. Letter to the Editor
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. CTNS mutations in patients with cystinosis (pages 454–458)

      Yair Anikster, Vorasuk Shotelersuk and William A. Gahl

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO;2-H

    2. Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients (pages 459–465)

      Mark V. Clough, Jeanette D. Hamlington and Iain McIntosh

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<459::AID-HUMU3>3.0.CO;2-9

  3. Rapid Communication

    1. Top of page
    2. Meeting Report
    3. Mutation Updates
    4. Rapid Communication
    5. Research Articles
    6. Letter to the Editor
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome (pages 466–470)

      Takao Kohsaka, Manabu Tagawa, Yasuro Takekoshi, Hiroko Yanagisawa, Keiko Tadokoro and Masao Yamada

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<466::AID-HUMU4>3.0.CO;2-6

  4. Research Articles

    1. Top of page
    2. Meeting Report
    3. Mutation Updates
    4. Rapid Communication
    5. Research Articles
    6. Letter to the Editor
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions (pages 471–476)

      Stanislav Karsten, Elena Voskoboeva, Xcenia Krasnopolskaja and Marie-Louise Bondeson

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<471::AID-HUMU5>3.0.CO;2-5

    2. Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism (pages 477–484)

      Ewa Jablonska-Skwiecinska, Irmina Lewandowska, Danuta Plochocka, Jacek Topczewski, Janusz G. Zimowski, Jolanta Klopocka and Beata Burzynska

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<477::AID-HUMU6>3.0.CO;2-X

    3. High incidence of cancer in a family segregating a mutation of the ATM gene: Possible role of ATM heterozygosity in cancer (pages 485–492)

      Jacques-Olivier Bay, Nancy Uhrhammer, David Pernin, Nadège Presneau, Andrei Tchirkov, Michèle Vuillaume, Valérie Laplace, Maria Grancho, Pierre Verrelle, Janet Hall and Yves-Jean Bignon

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<485::AID-HUMU7>3.0.CO;2-T

    4. Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss (pages 493–501)

      Zohreh Talebizadeh, Philip M. Kelley, James W. Askew, Kirk W. Beisel and Shelley D. Smith

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<493::AID-HUMU8>3.0.CO;2-P

    5. Compound SFTPB 1549C→GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency (pages 502–509)

      Mohammed Tredano, Ruurd M. van Elburg, Ageeth G. Kaspers, Luc J. Zimmermann, Claude Houdayer, Pierre Aymard, William M. Hull, Jeffrey A. Whitsett, Jacques Elion, Matthias Griese and Michel Bahuau

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<502::AID-HUMU9>3.0.CO;2-C

    6. Missense mutations in the cystic fibrosis gene in adult patients with asthma (pages 510–519)

      Conxi Lázaro, Rafael de Cid, Jordi Sunyer, Joan Soriano, Javier Giménez, Mónica Álvarez, Teresa Casals, Josep M. Antó and Xavier Estivill

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<510::AID-HUMU10>3.0.CO;2-O

    7. Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome (pages 520–526)

      Núria López-Bigas, Raquel Rabionet, Rafael de Cid, Nancy Govea, Paolo Gasparini, Leopoldo Zelante, Maria Lourdes Arbonés and Xavier Estivill

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<520::AID-HUMU11>3.0.CO;2-K

    8. Analysis of exon 1 mutations in the androgen receptor gene (pages 527–539)

      Bruce Gottlieb, Denise M. Vasiliou, Rose Lumbroso, Lenore K. Beitel, Leonard Pinsky and Mark A. Trifiro

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<527::AID-HUMU12>3.0.CO;2-X

  5. Letter to the Editor

    1. Top of page
    2. Meeting Report
    3. Mutation Updates
    4. Rapid Communication
    5. Research Articles
    6. Letter to the Editor
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Mutation in the coding region of the BRCA1 gene leads to aberrant splicing of the transcript (pages 540–541)

      Hilmi Ozcelik, Raluca Nedelcu, Vivian W.Y. Chan, Xiu-Hong Shi, Joan Murphy, Barry Rosen and Irene L. Andrulis

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<540::AID-HUMU13>3.0.CO;2-C

  6. Mutations in Brief

    1. Top of page
    2. Meeting Report
    3. Mutation Updates
    4. Rapid Communication
    5. Research Articles
    6. Letter to the Editor
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Insertion/deletion mutations of type I oculocutaneous albinism in Chinese patients from Taiwan (page 542)

      Chang-Hai Tsai, Fuu-Jen Tsai, Jer-Yuarn Wu, Shuan-Pei Lin, Jang-Gowth Chang, Chi-Fan Yang and Cheng-Chun Lee

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<542::AID-HUMU14>3.0.CO;2-3

    2. You have free access to this content
      Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient (pages 542–543)

      Minoru Okubo, Fumio Kanda, Asako Horinishi, Keiichi Takahashi, Shiho Okuda, Kazuo Chihara and Toshio Murase

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<542::AID-HUMU15>3.0.CO;2-0

    3. You have free access to this content
      Cystic fibrosis mutations in Israeli Arab patients (page 543)

      Ayala Laufer-Cahana, Israela Lerer, Michal Sagi, Tamar Rachmilewitz-Minei, Chen Zamir, Jacob R. Rivlin and Dvorah Abeliovich

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU16>3.0.CO;2-V

    4. You have free access to this content
      Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping (pages 543–544)

      Sandrine Vuillaumier-Barrot, Anne Barnier, Maryvonne Cuer, Geneviève Durand, Bernard Grandchamp and Nathalie Seta

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU17>3.0.CO;2-S

  7. Mutation and Polymorphism Reports

    1. Top of page
    2. Meeting Report
    3. Mutation Updates
    4. Rapid Communication
    5. Research Articles
    6. Letter to the Editor
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. A novel missense mutation 15747 T>C in the mitochondrial cytochrome b gene (page 545)

      Isabel Aguilera, José-raúl García-Lozano, Juan Bautista, Y. Campos, J. Arenas and Antonio Núñez-Roldán

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<545::AID-HUMU18>3.0.CO;2-J

    2. Novel germline BRCA1 mutation (155del4) in an African American with early-onset breast cancer (page 545)

      Joellen Dangel, Josephine Wagner-Costalas, Betsy Bove, Lisa Vanderveer, Mark Itzen, Mary Daly and Andrew K. Godwin

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<545::AID-HUMU19>3.0.CO;2-G

    3. The homozygous combination of Leu125Val and Ser563Asn polymorphisms in the PECAM1 (CD31) gene is associated with early severe coronary heart disease (page 545)

      Katrin Wenzel, Gert Baumann and Stefan B. Felix

      Article first published online: 22 NOV 1999 | DOI: 10.1002/(SICI)1098-1004(199912)14:6<545::AID-HUMU20>3.0.CO;2-5

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