• Issue
    2000
    209-299
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Mutation Update
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Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

Willy Lissens,  Linda De Meirleir,  Sara Seneca,  Inge Liebaers,  Garry K. Brown,  Ruth M. Brown,  Michinori Ito,  Etsuo Naito,  Yasuhiro Kuroda,  Douglas S. Kerr,  Isaiah D. Wexler,  Mulchand S. Patel,  Brian H. Robinson,  Agnieszka Seyda, 
  • Pages: 209-219
  • First Published: 10 February 2000
Mutation Update
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Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes

Wim Wuyts,  Wim Van Hul, 
  • Pages: 220-227
  • First Published: 10 February 2000
Mutation Update
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An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

Brunhilde Wirth, 
  • Pages: 228-237
  • First Published: 10 February 2000

Research Article
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A missense mutation in the OCTN2 gene associated with residual carnitine transport activity

Yuhuan Wang,  Michelle A. Kelly,  Tina M. Cowan,  Nicola Longo, 
  • Pages: 238-245
  • First Published: 10 February 2000
Research Article
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Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis

Sandra Alves,  Maria João Prata,  Fátima Ferreira,  António Amorim, 
  • Pages: 246-253
  • First Published: 10 February 2000
Research Article
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Phenylketonuria and hyperphenylalaninemia in eastern Germany: A characteristic molecular profile and 15 novel mutations

Julia B. Hennermann,  Barbara Vetter,  Claudia Wolf,  Elke Windt,  Peter Bührdel,  Jörg Seidel,  Eberhard Mönch,  Andreas E. Kulozik, 
  • Pages: 254-260
  • First Published: 10 February 2000
Research Article
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Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia

Wilfried Kugler,  Christian Willaschek,  Christiane Holtz,  Andreas Ohlenbusch,  Petra Laspe,  Regina Krügener,  Hilary Muirhead,  Werner Schröter,  Max Lakomek, 
  • Pages: 261-272
  • First Published: 10 February 2000
Research Article
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Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1)

Tarja Salonen,  Irma Järvelä,  Leena Peltonen,  Anu Jalanko, 
  • Pages: 273-279
  • First Published: 10 February 2000
Research Article
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Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria

Sahar Sibani,  Benedicte Christensen,  Erin O'Ferrall,  Irfan Saadi,  François Hiou-Tim,  David S. Rosenblatt,  Rima Rozen, 
  • Pages: 280-287
  • First Published: 10 February 2000

Meeting Report
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7th International HUGO Mutation Database Meeting, October 19, 1999, San Francisco, U.S.A.

Ourania Horaitis,  Richard G.H. Cotton, 
  • Pages: 288-292
  • First Published: 10 February 2000

Mutation in Brief
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Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia

A. Taillandier,  E. Cozien,  F. Muller,  Y. Merrien,  E. Bonnin,  C. Fribourg,  B. Simon-Bouy,  J.L. Serre,  E. Bieth,  R. Brenner,  M.P. Cordier,  S. De Bie,  F. Fellmann,  P. Freisinger,  V. Hesse,  R.C.M. Hennekam,  D. Josifova,  L. Kerzin-Storrar,  N. Leporrier,  M.T. Zabot,  E. Mornet, 
  • Page: 293
  • First Published: 10 February 2000
Mutation in Brief
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Mutation 985A>G in the MCAD gene shows low incidence in Estonian population

Hardo Lilleväli,  Külli Margus,  Katrin Õunap,  Andres Metspalu, 
  • Pages: 293-294
  • First Published: 10 February 2000
Mutation in Brief
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Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease

Miguel A. Martín,  Juan C. Rubio,  Yolanda Campos,  Juan Vílchez,  Ana Cabello,  Joaquín Arenas, 
  • Page: 294
  • First Published: 10 February 2000
Mutation in Brief
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Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia

Jian Wang,  Robert A. Hegele, 
  • Pages: 294-295
  • First Published: 10 February 2000
Mutation in Brief
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High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia

T.V. Pogoda,  I.N. Krakhmaleva,  N.A. Lipatova,  N.I. Shakhovskaya,  S.S. Shishkin,  S.A. Limborska, 
  • Page: 295
  • First Published: 10 February 2000
Mutation in Brief
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IDDM7 links to insulin-dependent diabetes mellitus in Danish multiplex families but linkage is not explained by novel polymorphisms in the candidate gene GALNT3

Ole P. Kristiansen,  Flemming Pociot,  Eric P. Bennett,  Henrik Clausen,  Jesper Johannesen,  Jørn Nerup,  Thomas Mandrup-Poulsen,  The Danish Study Group of Diabetes in Childhood ,  The Danish IDDM Epidemiology and Genetics Group , 
  • Pages: 295-296
  • First Published: 10 February 2000
Mutation in Brief
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PCR diagnosis of X-linked ichthyosis: Identification of a novel mutation (E560P) of the steroid sulfatase gene

Teruo Sugawara,  Hiroshi Shimizu,  Nobuhiko Hoshi,  Yuko Fujimoto,  Ayako Nakajima,  Seiichiro Fujimoto, 
  • Page: 296
  • First Published: 10 February 2000
Mutation in Brief
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Various AGC repeat numbers in the coding region of the human transcription factor gene E2F-4

Xiaoling Zhong,  Hiromichi Hemmi,  Junichi Koike,  Kazunori Tsujita,  Hiroyuki Shimatake, 
  • Pages: 296-297
  • First Published: 10 February 2000

Mutation and Polymorphism Report
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The Arg1075His substitution in the FBN1 gene is clinically innocent for Marfan syndrome †

Masahiko Ikebuchi,  Toshiyuki Yamamoto,  Hiroki Chikumi,  Yoshiyuki Tanaka,  Eiji Nanba,  Hiroaki Kuroda,  Shigetsugu Ohgi, 
  • Page: 298
  • First Published: 10 February 2000
Mutation and Polymorphism Report
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Polymorphism (g2035C>T) in the amelogenin gene

P.S. Hart,  A.C. Vlaservich,  T.C. Hart,  J.T. Wright, 
  • Page: 298
  • First Published: 10 February 2000
Mutation and Polymorphism Report
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A novel DNA polymorphism (4886C>T) in the human LCAT gene †

Delia Recalde,  Ana Cenarro,  Fernando Civeira,  Angel-Luis Garcia-Otin,  Miguel Pocovi, 
  • Page: 298
  • First Published: 10 February 2000
Mutation and Polymorphism Report
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A novel missense mutation (R712L) adjacent to the “active thiol” region of the cardiac β-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family †

Sadayappan Sakthivel,  Pulavelil Kurian Joseph,  Jagan Mohan Tharakan,  Hans-Peter Vosberg,  Chellam Rajamanickam, 
  • Pages: 298-299
  • First Published: 10 February 2000
Mutation and Polymorphism Report
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Identification of a novel large F9 gene mutation—An insertion of an Alu repeated DNA element in exon e of the factor 9 gene

K. Wulff,  H. Gazda,  W. Schröder,  R. Robicka-Milewska,  F.H. Herrmann, 
  • Page: 299
  • First Published: 10 February 2000
Mutation and Polymorphism Report
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Identification of a new polymorphism (c134G>A) in the exon 2 of the myelin protein zero gene

M. Muglia,  A. Toscano,  A.L. Gabriele,  A. Magariello,  A. Patitucci,  F.L. Conforti,  R. Mazzei,  C. Rodolico,  A. Gambardella,  A. Quattrone, 
  • Page: 299
  • First Published: 10 February 2000