No linkage to chromosome 14 in Swedish Alzheimer's disease familiespp218 - 219 Lars Lannfelt, Lena Lilius, Henrik Appelgren, Karin Axelman, Charlotte Forsell, Li Liu, Kurt Johansson
& Caroline Graff doi:10.1038/ng0793-218 References|PDF
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Nonsense mutations and diminished mRNA levelsp219 Iain McIntosh, Ada Hamosh
& Harry C. Dietz doi:10.1038/ng0793-219 References|PDF
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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1pp221 - 226 Harry T. Orr, Ming-yi Chung, Sandro Banfi, Thomas J. Kwiatkowski Jr., Antonio Servadio, Arthur L. Beaudet, Alanna E. McCall, Lisa A. Duvick, Laura P. W. Ranum
& Huda Y. Zoghbi doi:10.1038/ng0793-221 Abstract + references|PDF
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GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor functionpp227 - 232 Paul Godfrey, Jason O. Rahal, Wesley G. Beamer, Neal G. Copeland, Nancy A. Jenkins
& Kelly E. Mayo doi:10.1038/ng0793-227 Abstract + references|PDF
(817K)
Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM genepp233 - 238 Luc A. Sabouri, Mani S. Mahadevan, Monica Narang, David S.C. Lee, Linda C. Surh
& Robert G. Korneluk doi:10.1038/ng0793-233 Abstract + references|PDF
(796K)
Cloning of human, mouse and fission yeast recombination genes homologous to RAD51 and recApp239 - 243 Akira Shinohara, Hideyuki Ogawa, Yoichi Matsuda, Noriko Ushio, Kazuho Ikeo
& Tomoko Ogawa doi:10.1038/ng0793-239 Abstract + references|PDF
(629K)
Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG−repeatpp244 - 251 Claude T. Ashley, James S. Sutcliffe, Catherine B. Kunst, Harold A. Leiner, Evan E. Eichler, David L. Nelson
& Stephen T. Warren doi:10.1038/ng0793-244 Abstract + references|PDF
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Telomere capture stabilizes chromosome breakagepp252 - 255 Paul S. Meltzer, Xin-Yuan Guan
& Jeffrey M. Trent doi:10.1038/ng0793-252 Abstract + references|PDF
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3,400 new expressed sequence tags identify diversity of transcripts in human brainpp256 - 267 Mark D. Adams, Anthony R. Kerlavage, Chris Fields
& J. Craig Venter doi:10.1038/ng0793-256 Abstract + references|PDF
(1,297K)
Functional equivalence of human X− and Y−encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndromepp268 - 271 Minoru Watanabe, Andrew R. Zinn, David C. Page
& Takeharu Nishimoto doi:10.1038/ng0793-268 Abstract + references|PDF
(441K)
A high resolution deletion map of human chromosome Xp22pp272 - 279 Laura Schaefer, Giovanni B. Ferrero, Alessandra Grillo, Maria T. Bassi, Elizabeth J. Roth, Martin C. Wapenaar, Gert-Jan B. van Ommen, Thuluvancheri K. Mohandas, Mariano Rocchi, Huda Y. Zoghbi
& Andrea Ballabio doi:10.1038/ng0793-272 Abstract + references|PDF
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Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindnesspp280 - 283 Thaddeus P. Dryja, Eliot L. Berson, Vikram R. Rao
& Daniel D. Oprian doi:10.1038/ng0793-280 Abstract + references|PDF
(367K)
A mitochondrial tRNA anticodon swap associated with a muscle diseasepp284 - 288 Carlos T. Moraes, Federica Ciacci, Eduardo Bonilla, Victor Ionasescu, Eric A. Schon
& Salvatore DiMauro doi:10.1038/ng0793-284 Abstract + references|PDF
(575K)
Mitochondrial ribosomal RNA mutation associated with both antibiotic−induced and non−syndromic deafnesspp289 - 294 Toni R. Prezant, John V. Agapian, M. Charlotte Bohlman, Xiangdong Bu, Sitki Öztas, Wei-Qin Qiu, Kathleen S. Arnos, Gino A. Cortopassi, Lutfi Jaber, Jerome I. Rotter, Mordechai Shohat
& Nathan Fischel-Ghodsian doi:10.1038/ng0793-289 Abstract + references|PDF
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Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23−24.1pp295 - 299 S. Gispert, R. Twells, G. Orozco, A. Brice, J. Weber, L. Heredero, K. Scheufler, B. Riley, R. Allotey, C. Nothers, R. Hillermann, A. Lunkes, C. Khati, G. Stevanin, A. Hernandez, C. Magariño, T. Klockgether, A. Durr, H. Chneiweiss, J. Enczmann, M. Farrall, J. Beckmann, M. Mullan, P. Wernet, Y. Agid, H.-J. Freund, R. Williamson, G. Auburger
& S. Chamberlain doi:10.1038/ng0793-295 Abstract + references|PDF
(473K)
The gene for Machado−Joseph disease maps to human chromosome 14qpp300 - 304 Y. Takiyama, M. Nishizawa, H. Tanaka, S. Kawashima, H. Sakamoto, Y. Karube, H. Shimazaki, M. Soutome, K. Endo, S. Ohta, Y. Kagawa, I. Kanazawa, Y. Mizuno, M. Yoshida, T. Yuasa, Y. Horikawa, K. Oyanagi, H. Nagai, T. Kondo, T. Inuzuka, O. Onodera
& S. Tsuji doi:10.1038/ng0793-300 Abstract + references|PDF
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Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTRpp305 - 310 Anneke M. Lucassen, Cecile Julier, Jean-Paul Beressi, Christian Boitard, Philippe Froguel, Mark Lathrop
& John I. Bell doi:10.1038/ng0793-305 Abstract + references|PDF
(578K)
Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11pp311 - 313 L. Carrier, C. Hengstenberg, J. S. Beckmann, P. Guicheney, C. Dufour, J. Bercovici, E. Dausse, I. Berebbi-Bertrand, C. Wisnewsky, D. Pulvenis, L. Fetler, A. Vignal, J. Weissenbach, D. Hillaire, J. Feingold, J.-B. Bouhour, A. Hagege, M. Desnos, R. Isnard, O. Dubourg, M. Komajda
& K. Schwartz doi:10.1038/ng0793-311 Abstract + references|PDF
(319K)
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patientspp314 - 320 Franco Taroni, Elisabetta Verderio, Federica Dworzak, Patrick J. Willems, Patrizia Cavadini
& Stefano DiDonato doi:10.1038/ng0793-314 Abstract + references|PDF
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Corrigendum: Transgenic mice containing a human heavy chain immunoglobulin gene fragment cloned in a yeast artificial chromosomep320 doi:10.1038/ng0793-320a PDF
(139K)
Corrigendum: X−chnomosome inactivation occurs at different times in different tissues of the post−implantation mouse embryop320 doi:10.1038/ng0793-320b PDF
(139K)
