Human Molecular Genetics - Table of Contents
Volume 07, January - December 1998: Issue 08
Location at: http://www.oup.co.uk/hmg/Volume_07/Issue_08/
An isoform of Pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes
Nancy Braverman, Gabriele Dodt, Stephen J. Gould, David Valle
Pages 1195-1205
Document ID = hmg_07_08_ddb161_gml
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Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis
Richard J. L. F. Lemmers, Silvere M. van der Maarel, Judith C. T. van Deutekom, Michiel J. R. van der Wielen, Giancarlo Deidda, Hans G. Dauwerse, Jane Hewitt, Marten Hofker, Egbert Bakker, George W. Padberg, Rune R. Frants
Pages 1207-1214
Document ID = hmg_07_08_ddb158_gml
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Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype
John S. Harvey, William F. Carey, C. Phillip Morris
Pages 1215-1219
Document ID = hmg_07_08_ddb163_gml
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Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans
Amanda R. Savage, Michael B. Petersen, Dorothy Pettay, Lisa Taft, Katherine Allran, Sallie B. Freeman, Georgia Karadima, Dimitris Avramopoulos, Claudine Torfs, Margareta Mikkelsen, Terry J. Hassold, Stephanie L. Sherman
Pages 1221-1227
Document ID = hmg_07_08_ddb154_gml
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Linkage of the MHC to familial multiple sclerosis suggests genetic heterogeneity
Pages 1229-1234
Document ID = hmg_07_08_ddb153_gml
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DRB1-DQA1-DQB1 loci and multiple sclerosis predisposition in the Sardinian population
Maria Giovanna Marrosu, Maria Rita Murru, Gianna Costa, Raffaele Murru, Francesco Muntoni, Francesco Cucca
Pages 1235-1237
Document ID = hmg_07_08_ddb152_gml
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Gene conversion is a likely cause of mutation in PKD1
Terry J. Watnick, Michael A. Gandolph, Horst Weber, Hartmut P. H. Neumann, Gregory G. Germino
Pages 1239-1243
Document ID = hmg_07_08_ddb165_gml
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A Golgi localization signal identified in the Menkes recombinant protein
Michael J. Francis, Emma E. Jones, Elaine R. Levy, Sreenivasan Ponnambalam, Jamel Chelly, Anthony P. Monaco
Pages 1245-1252
Document ID = hmg_07_08_ddb157_gml
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A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications
Rachael J. Ritchie, Marie-Genevieve Mattei, Marc Lalande
Pages 1253-1260
Document ID = hmg_07_08_ddb166_gml
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Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1)
Anja Klose, M. Reza Ahmadian, Markus Schuelke, Klaus Scheffzek, Sven Hoffmeyer, Andreas Gewies, Frank Schmitz, Dieter Kaufmann, Hartmut Peters, Alfred Wittinghofer, Peter Nurnberg
Pages 1261-1268
Document ID = hmg_07_08_ddb150_gml
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The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding
Christian L. Lorson, Elliot J. Androphy
Pages 1269-1275
Document ID = hmg_07_08_ddb167_gml
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The P-selectin gene is highly polymorphic: reduced frequency of the Pro715 allele carriers in patients with myocardial infarction
Stefan-Martin Herrmann, Sylvain Ricard, Viviane Nicaud, Christine Mallet, Alun Evans, Jean-Bernard Ruidavets, Dominique Arveiler, Gerald Luc, Francois Cambien
Pages 1277-1284
Document ID = hmg_07_08_ddb151_gml
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Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities
Anne-Sophie Lia, Herve Seznec, Helene Hofmann-Radvanyi, Francois Radvanyi, Chantal Duros, Celine Saquet, Martine Blanche, Claudine Junien, Genevieve Gourdon
Pages 1285-1291
Document ID = hmg_07_08_ddb155_gml
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Functional analysis and intracellular localization of the human Menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHO-K1)
Sharon La Fontaine, Stephen D. Firth, Paul J. Lockhart, Hilary Brooks, Robert G. Parton, James Camakaris, Julian F. B. Mercer
Pages 1293-1300
Document ID = hmg_07_08_ddb160_gml
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The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression
Tamilla Nechiporuk, Duong P. Huynh, Karla Figueroa, Soodabeh Sahba, Alex Nechiporuk, Stefan-M. Pulst
Pages 1301-1309
Document ID = hmg_07_08_ddb159_gml
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Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor
Thierry Bienvenu, Vincent des Portes, Anne Saint Martin, Nathalie McDonell, Pierre Billuart, Alain Carrie, Marie-Claude Vinet, Philippe Couvert, Daniela Toniolo, Hans-Hilger Ropers, Claude Moraine, Hans van Bokhoven, Jean-Pierre Fryns, Axel Kahn, Cherif Beldjord, Jamel Chelly
Pages 1311-1315
Document ID = hmg_07_08_ddb162_gml
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Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF)
Alain Bernot, Corinne da Silva, Jean-Louis Petit, Corinne Cruaud, Christophe Caloustian, Valerie Castet, Mehdi Ahmed-Arab, Christiane Dross, Madeleine Dupont, Daniel Cattan, Nizar Smaoui, Catherine Dode, Christophe Pecheux, Brigitte Nedelec, Jean Medaxian, Michel Rozenbaum, Itshak Rosner, Marc Delpech, Gilles Grateau, Jacques Demaille, Jean Weissenbach, Isabelle Touitou
Pages 1317-1325
Document ID = hmg_07_08_ddb164_gml
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Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca-dependent signaling protein which is mutated in human X-linked neuronal migration defects
Khalid Sossey-Alaoui, Andrew J. Hartung, Renzo Guerrini, David K. Manchester, Annio Posar, A. Puche-Mira, Eva Andermann, William B. Dobyns, Anand K. Srivastava
Pages 1327-1332
Document ID = hmg_07_08_ddb156_gml
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Erratum: Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome
D. Vollrath, V. L. Jaramillo-Babb, M. V. Clough, I. McIntosh, K. M. Scott, P. R. Lichter and J. E. Richards
Page 1333
Document ID = hmg_07_08_erratum_gml
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