Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

October 1999

Volume 14, Issue 4

Pages 275–357

  1. Mutation Update

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Overview of mutations in the PCCA and PCCB genes causing propionic acidemia (pages 275–282)

      Magdalena Ugarte, Celia Pérez-Cerdá, Pilar Rodríguez-Pombo, Lourdes R. Desviat, Belén Pérez, Eva Richard, Silvia Muro, Eric Campeau, Toshihiro Ohura and Roy A. Gravel

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N

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      RB1 gene mutations in retinoblastoma (pages 283–288)

      Dietmar R. Lohmann

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<283::AID-HUMU2>3.0.CO;2-J

  2. Rapid Communication

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Methylation-sensitive, single-strand conformation analysis (MS-SSCA): A rapid method to screen for and analyze methylation (pages 289–293)

      Tina Bianco, Damian Hussey and Alexander Dobrovic

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<289::AID-HUMU3>3.0.CO;2-A

  3. Research Articles

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Molecular characterization of Wilson disease in the Sardinian population—Evidence of a founder effect (pages 294–303)

      Georgios Loudianos, Valeria Dessi, Mario Lovicu, Andrea Angius, Annalena Figus, Franco Lilliu, Stefano De Virgiliis, Anna Maria Nurchi, Angelo Deplano, Paolo Moi, Mario Pirastu and Antonio Cao

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<294::AID-HUMU4>3.0.CO;2-9

    2. A study of Wilson disease mutations in Britain (pages 304–311)

      Diana Curtis, Miranda Durkie, Pauline Balac (Morris), Donna Sheard, Anne Goodeve, Ian Peake, Oliver Quarrell and Stuart Tanner

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<304::AID-HUMU5>3.0.CO;2-W

    3. Threading analysis of the Pitx2 homeodomain: Predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis (pages 312–319)

      Sharmila Banerjee-Basu and Andreas D. Baxevanis

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<312::AID-HUMU6>3.0.CO;2-S

    4. Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy (pages 320–325)

      Anna Buj-Bello, Valérie Biancalana, Céline Moutou, Jocelyn Laporte and Jean-Louis Mandel

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O

    5. An online locus-specific mutation database for familial hypertrophic cardiomyopathy (pages 326–332)

      David C.Y. Fung, Bing Yu, Tim Littlejohn and Ronald J. Trent

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<326::AID-HUMU8>3.0.CO;2-F

  4. Methods

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancers (pages 333–339)

      Norbert Arnold, Eva Gross, Ulrike Schwarz-Boeger, Jacobus Pfisterer, Walter Jonat and Marion Kiechle

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<333::AID-HUMU9>3.0.CO;2-C

    2. Comparison of three methods for single nucleotide polymorphism typing for DNA bank studies: Sequence-specific oligonucleotide probe hybridisation, TaqMan liquid phase hybridisation, and microplate array diagonal gel electrophoresis (MADGE) (pages 340–347)

      John W. Holloway, Bianca Beghé, Steve Turner, Lesley J. Hinks, Ian N.M. Day and W. Martin Howell

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<340::AID-HUMU10>3.0.CO;2-Z

  5. Letter to the Editor

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. The ΔF508 mutation in Ecuador, South America (pages 348–350)

      César Paz-y-Miño, J. Christian Pérez, Ramiro Burgos, Ma. Verónica Dávalos and Paola E. Leone

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<348::AID-HUMU11>3.0.CO;2-8

  6. Mutations in Brief

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. You have free access to this content
      A null-mutated lysyl hydroxylase gene in a compound heterozygote British patient with Ehlers-Danlos syndrome type VI (page 351)

      Jari Heikkinen, Birgitta Pousi, Michael Pope and Raili Myllylä

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<351::AID-HUMU12>3.0.CO;2-P

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      Somatic mutations of the first 14 exons of APC in hamartomatous polyps of the colon (pages 351–352)

      Jin C. Kim, Seon A. Roh, Hee C. Kim, Chang S. Yu, Dong H. Lee, Byung Y. Ahn, Kyung M. Kim, Suk K. Yang, Gyeong H. Kang, Nicholas E. Beck and Walter F. Bodmer

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<351::AID-HUMU13>3.0.CO;2-M

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      Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Chinese (page 352)

      O. Ainoon, J. Joyce, N.Y. Boo, S.K. Cheong, Z.A. Zainal and N.H. Hamidah

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<352::AID-HUMU14>3.0.CO;2-G

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      Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency (pages 352–353)

      Consuelo Climent, Miguel Ángel García-Pérez, Pablo Sanjurjo, José-Ignacio Ruiz-Sanz, María Antònia Vilaseca, Mercè Pineda, Jaume Campistol and Vicente Rubio

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<352::AID-HUMU15>3.0.CO;2-D

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      A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome (page 353)

      Karla F.S. Melo, Ana Claudia Latronico, Elaine M.F. Costa, Ana Elisa C. Billerbeck, Berenice B. Mendonca and Ivo J.P. Arnhold

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU16>3.0.CO;2-7

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      A Novel Mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease (pages 353–354)

      Emilia Bellone, Emilio Di Maria, Silvia Soriani, Alessandra Varese, Laura Lamba Doria, Franco Ajmar and Paola Mandich

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU17>3.0.CO;2-4

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      Analysis of DNA elements that modulate myosin VIIA expression in humans (page 354)

      D.J. Orten, M.D. Weston, P.M. Kelley, C.W. Cremers, M. Wagenaar, S.G. Jacobson and W.J. Kimberling

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<354::AID-HUMU18>3.0.CO;2-Z

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      Acute intermittent porphyria: Characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T) (page 355)

      Adriana De Siervi, Manuel Mendez, Victoria Estela Parera, Laura Varela, Alcira M. del C. Batlle and Maria Victoria Rossetti

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<355::AID-HUMU19>3.0.CO;2-T

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      Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia (pages 355–356)

      M. Luís Cardoso, Esmeralda Martins, Rui Vasconcelos, Laura Vilarinho and Jorge Rocha

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<355::AID-HUMU20>3.0.CO;2-I

  7. Mutation and Polymorphism Reports

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Identification of a novel mutation (525del T) in exon 4 of the CFTR gene in a patient with cystic fibrosis (page 357)

      Jelena Kušic, Dragica Radojkovic, Harry Cuppens, Martine Jaspers, Jelena Tomic and Ana Savic

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<357::AID-HUMU21>3.0.CO;2-9

    2. Heterozygous familial hypercholesterolemia: A new point-mutation (1372del2) in the LDL-receptor gene which causes severe hypercholesterolemia (page 357)

      Kurt Widhalm, Christa Iro, Annabell Lindemayr, Helena Schmidt and Gert Kostner

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<357::AID-HUMU22>3.0.CO;2-6

    3. New missense mutation in exon 13 (N789T) of the coagulation factor V gene (page 357)

      H. Kostka, G. Siegert, S. Gehrisch, E. Kuhlisch, E. Runge and W. Jaross

      Article first published online: 28 SEP 1999 | DOI: 10.1002/(SICI)1098-1004(199910)14:4<357::AID-HUMU23>3.0.CO;2-3

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