• Issue
    1999
    343-415
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Meeting Report
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5th International HUGO Mutation Database Meeting, 27th October, 1998, Denver, U.S.A.

Ourania Horaitis,  Richard G.H. Cotton, 
  • Page: 343
  • First Published: 20 May 1999

Special Article
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Guidelines and recommendations for content, structure, and deployment of mutation databases

C.R. Scriver,  P.M. Nowacki,  H. Lehväslaiho, 
  • Pages: 344-350
  • First Published: 20 May 1999

Mutation Update
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Congenital hyperinsulinism: Molecular basis of a heterogeneous disease

Thomas Meissner,  Beatrice Beinbrech,  Ertan Mayatepek, 
  • Pages: 351-361
  • First Published: 20 May 1999
Mutation Update
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Cystathionine β-synthase mutations in homocystinuria

Jan P. Kraus,  Miroslav Janošík,  Viktor Kožich,  Roseann Mandell,  Vivian Shih,  M.P. Sperandeo,  Gianfranco Sebastio,  Raffaella de Franchis,  Generoso Andria,  Leo A.J. Kluijtmans,  Henk Blom,  Godfried H.J. Boers,  Ross B. Gordon,  Pierre Kamoun,  Michael Y. Tsai,  Warren D. Kruger,  Hans G. Koch,  Toshihiro Ohura,  Mette Gaustadnes, 
  • Pages: 362-375
  • First Published: 20 May 1999

Rapid Communication
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Two novel mutations of the FMO3 gene in a proband with trimethylaminuria

B.R. Akerman,  S. Forrest,  L. Chow,  R. Youil,  M. Knight,  E.P. Treacy, 
  • Pages: 376-379
  • First Published: 20 May 1999

Research Article
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Molecular genetic study of Pompe disease in Chinese patients in Taiwan

Tsang-Ming Ko,  Wuh-Liang Hwu,  Yu-Wan Lin,  Li-Hui Tseng,,  Hsiao-Lin Hwa,  Tso-Ren Wang,  Sou-Ming Chuang, 
  • Pages: 380-384
  • First Published: 20 May 1999
Research Article
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Genetic diagnosis of 21-hydroxylase deficiency: DGGE-based mutation scanning of CYP21

Gita Ohlsson,  Jørn Müller,  Marianne Schwartz, 
  • Pages: 385-389
  • First Published: 20 May 1999
Research Article
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Detection of the ΔF508 (F508del) mutation of the cystic fibrosis gene by surface plasmon resonance and biosensor technology

Giordana Feriotto,  Marco Lucci,  Nicoletta Bianchi,  Carlo Mischiati,  Roberto Gambari, 
  • Pages: 390-400
  • First Published: 20 May 1999
Research Article
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Six novel β-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis

Cláudia M.D. Silva,  Márcia H. Severini,  Andréia Sopelsa,  Janice C. Coelho,  Arnaldo Zaha,  Alessandra d'Azzo,  Roberto Giugliani, 
  • Pages: 401-409
  • First Published: 20 May 1999

Letter to the Editor
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Low frequency of oncogenic mutations in the core promoter region of the RB1 gene

Tsuyoshi Fujita,  Naoko Ohtani-Fujita,  Toshiyuki Sakai,  Joyce M. Rapaport,  Thaddeus P. Dryja,  Mitsuo V. Kato,  Kanji Ishizaki,  Masao S. Sasaki,  Yoshihiro Hotta,  Koshi Maeda,  Shigeru Kinoshita,  Yoshitaka Ohnishi,  Kensei Minoda, 
  • Pages: 410-411
  • First Published: 20 May 1999

Mutation in Brief
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Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda

Julie F. McManus,  C. Glenn Begley,  S. Sassa,  Sujiva Ratnaike, 
  • Page: 412
  • First Published: 20 May 1999
Mutation in Brief
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Rapid screening of the LDL receptor point mutation FH-Genoa/Palermo

Giuseppina Marino,  Salvatore Travali,  Tony Reyes,  Bruce R. Wallace,  Rosalia Caldarella,  Simone Travali,  Giovanni Emmanuele,  Franca Stivala,  Carlo M. Barbagallo,  Alfredo Cantafora,  Stefano Bertolini,  Alberto Notarbartolo,  Maurizio Averna, 
  • Page: 412
  • First Published: 20 May 1999
Mutation in Brief
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Mitochondrial DNA variations in patients with Type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population

Emma J. Sherratt,  Andrew W. Thomas,  James W. Gagg,  Aneela Majid,  John C. Alcolado, 
  • Pages: 412-413
  • First Published: 20 May 1999
Mutation in Brief
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A single, large deletion accounts for all the β-globin gene mutations in twenty families from Sabah (North Borneo), Malaysia

M.K. Thong,  Z. Rudzki,  J. Hall,  J.A.M.A. Tan,  L.L. Chan,  S.F. Yap, 
  • Page: 413
  • First Published: 20 May 1999
Mutation in Brief
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Screen of 55 Slovenian haemophilia A patients: Identification of 2 novel mutations (S-1R and IVS23+1G→A) and discussion of mutation spectrum

Lana Strmecki,  Majda Benedik-Dolnicar,  Katja Vouk,  Radovan Komel, 
  • Page: 413
  • First Published: 20 May 1999

Mutation and Polymorphism Report
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A novel nonsense mutation (Q57X) of GJB2 in a deaf individual who is a compound heterozygote for the 30delG allele

Grace Gathungu,  Hung Jeff Kim,  Robert J. Morell, 
  • Page: 414
  • First Published: 20 May 1999
Mutation and Polymorphism Report
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Homozygous mutation 341delG/101X of the glucose-6-phosphatase (G6PC) gene causes glycogen storage disease type Ia (von Gierke disease) in a Chinese patient †

Tsang-Ming Ko,  Zhi-Cheng Liang,  Yu-Wan Lin,  Wuh-Liang Hwu, 
  • Page: 414
  • First Published: 20 May 1999
Mutation and Polymorphism Report
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Homozygous state for a new single bp-deletion (g.787delA) in exon 5 of the glucose-6-phosphatase gene in a patient with early onset of glycogen storage disease type 1a †

M. Linnebank,  B. Rapp,  A. Homberger,  C. Winter,  T. Marquardt,  U. Künzel,  H.G. Koch, 
  • Page: 414
  • First Published: 20 May 1999
Mutation and Polymorphism Report
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A novel alpha-1-antitrypsin P362H variant found in a population sample from São Tomé e Príncipe (Gulf of Guinea, West Africa) †

Susana Seixas,  M. Jesus Trovoada,  M. Teresa Santos,  Jorge Rocha, 
  • Page: 414
  • First Published: 20 May 1999
Mutation and Polymorphism Report
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Alpha2-HS glycoprotein (fetuin) deficiency in a heterozygote of 4452A>T

Motoki Osawa,  Lotte Henke,  Kazuo Umetsu,  Jürgen Henke, 
  • Page: 415
  • First Published: 20 May 1999