• Issue
    2004
    401-524
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Meeting Report
Free Access

Approaches for analyzing human mutations and nucleotide sequence variation: A report from the Seventh International Mutation Detection meeting, 2003†

Ann-Christine Syvänen,  Graham R. Taylor, 
  • Pages: 401-405
  • First Published: 19 March 2004

Review
Free Access

PCR-Based detection of minority point mutations†

G. Mike Makrigiorgos, 
  • Pages: 406-412
  • First Published: 19 March 2004
Review
Free Access

MLPA and MAPH: New techniques for detection of gene deletions†

Loryn N. Sellner,  Graham R. Taylor, 
  • Pages: 413-419
  • First Published: 19 March 2004
Review
Free Access

Proofreading genotyping assays and electrochemical detection of SNPs†

Garry C. King,  Daniel A. Di Giusto,  Wjatschesslaw A. Wlassoff,  Susanne Giesebrecht,  Eleanor Flening,  Gregory D. Tyrelle, 
  • Pages: 420-425
  • First Published: 19 March 2004
Review
Free Access

PAP: Detection of ultra rare mutations depends on P* oligonucleotides: “Sleeping Beauties” awakened by the kiss of pyrophosphorolysis†

Qiang Liu,  Steve S. Sommer, 
  • Pages: 426-436
  • First Published: 31 March 2004
Review
Free Access

DNA analysis by MALDI-TOF mass spectrometry†

Ivo Glynne Gut, 
  • Pages: 437-441
  • First Published: 19 March 2004
Review
Free Access

Single-molecule analysis for molecular haplotyping†

Pui-Yan Kwok,  Ming Xiao, 
  • Pages: 442-446
  • First Published: 19 March 2004

Special Article
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The challenge of documenting mutation across the genome: The human genome variation society approach†

Ourania Horaitis,  Richard G. H. Cotton, 
  • Pages: 447-452
  • First Published: 19 March 2004

Mutation Update
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PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)†‡

Carsten Bergmann,  Jan Senderek,  Fabian Küpper,  Frank Schneider,  Christian Dornia,  Ellen Windelen,  Thomas Eggermann,  Sabine Rudnik-Schöneborn,  Jutta Kirfel,  Laszlo Furu,  Luiz F. Onuchic,  Sandro Rossetti,  Peter C. Harris,  Stefan Somlo,  Lisa Guay-Woodford,  Gregory G. Germino,  Markus Moser,  Reinhard Büttner,  Klaus Zerres, 
  • Pages: 453-463
  • First Published: 25 March 2004

Databases
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The Swiss-Prot variant page and the ModSNP database: A resource for sequence and structure information on human protein variants†

Yum L. Yip,  Holger Scheib,  Alexander V. Diemand,  Alexandre Gattiker,  Livia M. Famiglietti,  Elisabeth Gasteiger,  Amos Bairoch, 
  • Pages: 464-470
  • First Published: 19 March 2004

Rapid Communication
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Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis†

Alfredo Ramírez,  Julia Faupel,  Ingrid Goebel,  Anne Stiller,  Susanne Beyer,  Christina Stöckle,  Carola Hasan,  Udo Bode,  Uwe Kornak,  Christian Kubisch, 
  • Pages: 471-476
  • First Published: 31 March 2004

Research Article
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An activated 5′ cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)†

Jonas Denecke,  Christian Kranz,  Dirk Kemming,  Hans-Georg Koch,  Thorsten Marquardt, 
  • Pages: 477-486
  • First Published: 31 March 2004
Research Article
Full Access

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)†

Carsten Bergmann,  Jan Senderek,  Frank Schneider,  Christian Dornia,  Fabian Küpper,  Thomas Eggermann,  Sabine Rudnik-Schöneborn,  Jutta Kirfel,  Markus Moser,  Reinhard Büttner,  Klaus Zerres, 
  • Pages: 487-495
  • First Published: 01 April 2004
Research Article
Full Access

Human vitamin K-dependent GAS6: Gene structure, allelic variation, and association with stroke†

Xavier Muñoz,  Lauro Sumoy,  Reposo Ramírez-Lorca,  José Villar,  Pablo García de Frutos,  Núria Sala, 
  • Pages: 506-512
  • First Published: 31 March 2004
Research Article
Full Access

Genetic characterization of myeloperoxidase deficiency in Italy†‡

Caterina Marchetti,  Pierluigi Patriarca,  G. Pietro Solero,  Francisco E. Baralle,  Maurizio Romano, 
  • Pages: 496-505
  • First Published: 25 March 2004

Methods
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Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis†

Christina Vrettou,  Joanne Traeger-Synodinos,  Maria Tzetis,  Giles Palmer,  Christalena Sofocleous,  Emmanuel Kanavakis, 
  • Pages: 513-521
  • First Published: 31 March 2004

Mutation in Brief
Free Access

Novel mutations in the TRIM37 gene in Mulibrey Nanism†‡

Riikka H. Hämäläinen,  Kristiina Avela,  Julie A. Lambert,  Jukka Kallijärvi,  Wafaa Eyaid,  Jürgen Gronau,  Andrew P. Ignaszewski,  Deborah McFadden,  Giovanni Sorge,  Marita Lipsanen-Nyman,  Anna-Elina Lehesjoki, 
  • Page: 522
  • First Published: 31 March 2004
Mutation in Brief
Free Access

Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP)†‡

Marie Luise Bisgaard,  RASMUS S. Ripa,  Steffen Bülow, 
  • Page: 522
  • First Published: 31 March 2004
Mutation in Brief
Free Access

A novel splice-site mutation in the common gamma chain (γc) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotype†‡

Samantha L. Ginn,  Christine Smyth,  Melanie Wong,  Bruce Bennetts,  Peter B. Rowe,  Ian E. Alexander, 
  • Pages: 522-523
  • First Published: 31 March 2004
Mutation in Brief
Free Access

Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa†‡

Rıza Köksal Özgü,  Hakan Durukan,  Ayşe Turan,  Cihan Öner,  Ay Öğüş,  Debora B. Farber, 
  • Page: 523
  • First Published: 31 March 2004
Mutation in Brief
Free Access

First genotype characterization of Argentinean FAP patients: Identification of 14 novel APCmutations†‡

Marina De Rosa,  Ricardo J. Dourisboure,  Gemma Morelli,  Alfredo Graziano,  Alejandro Gutiérrez,  Stephen Thibodeau,  Kevin Halling,  Karina Collia Avila,  Francesca Duraturo,  Ernesto J. Podesta,  Paola Izzo,  Angela R. Solano, 
  • Pages: 523-524
  • First Published: 31 March 2004
Mutation in Brief
Free Access

Characterization of seven novel mutations in seven patients with GAMT deficiency†‡

C.B. Item,  S. Mercimek-Mahmutoglu,  R. Battini,  C. Edlinger-Horvat,  C. Stromberger,  O. Bodamer,  A. Mühl,  M.A. Vilaseca,  H. Korall,  S. Stöckler-Ipsiroglu, 
  • Page: 524
  • First Published: 31 March 2004
Mutation in Brief
Free Access

OCRLMutation analysis in Italian patients with Lowe syndrome†‡

Maria Addis,  Mario Loi,  Carmen Lepiani,  Milena Cau,  Maria Antonietta Melis, 
  • Pages: 524-525
  • First Published: 31 March 2004
Mutation in Brief
Free Access

Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients†‡

Ana Djarmati,  Katja Hedrich,  Marina Svetel,  Nora Schäfer,  Vladislava Juric,  Slobodanka Vukosavic,  Robert Hering,  Olaf Riess,  Stanka Romac,  Christine Klein,  Vladimir Kostic, 
  • Page: 525
  • First Published: 31 March 2004
Mutation in Brief
Free Access

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus†‡

I. Maystadt,  M. Zarhrate,  P. Landrieu,  O. Boespflug-Tanguy,  S. Sukno,  P. Collignon,  J. Melki,  C. Verellen-Dumoulin,  A. Munnich,  L. Viollet, 
  • Pages: 525-526
  • First Published: 31 March 2004
Mutation in Brief
Free Access

Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing†‡

Christian A. Hübner,  Barbara Utermann,  Sigrid Tinschert,  Gabriele Krüger,  Bernadette Ressler,  Cordula Steglich,  Albert Schinzel,  Andreas Gal, 
  • Page: 526
  • First Published: 31 March 2004
Mutation in Brief
Free Access

Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs†‡

Susanne F. de Haar,  D. (Ineke) C. Jansen,  Ton Schoenmaker,  Hilde De Vree,  Vincent Everts,  Wouter Beertsen, 
  • Page: 524
  • First Published: 31 March 2004