Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletionpp11 - 15 Scott W. Ballinger, John M. Shoffner, Ellis V. Hedaya, Ian Trounce, Meraida A. Polak, Deborah A. Koontz
& Douglas C. Wallace doi:10.1038/ng0492-11 Abstract + references|PDF
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Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndromepp16 - 23 Jutta Gärtner, Hugo Moser
& David Valle doi:10.1038/ng0492-16 Abstract + references|PDF
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Rapid generation of region specific probes by chromosome microdissection and their applicationpp24 - 28 Paul S. Meltzer, Xin-Yuan Guan, Ann Burgess
& Jeffrey M. Trent doi:10.1038/ng0492-24 Abstract + references|PDF
(586K)
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1App29 - 33 James R. Lupski, Carol A. Wise, Akira Kuwano, Liu Pentao, Julie T. Parke, Daniel G. Glaze, David H. Ledbetter, Frank Greenberg
& Pragna I. Patel doi:10.1038/ng0492-29 Abstract + references|PDF
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Automated DNA sequencing and analysis of 106 kilobases from human chromosome 19q13.3pp34 - 39 A. Martin-Gallardo, W. R. McCombie, J. D. Gocayne, M. G. FitzGerald, S. Wallace, B. M. B. Lee, J. Lamerdin, S. Trapp, J. M. Kelley, L-I. Liu, M. Dubnick, L. A. Johnston-Dow, A. R. Kerlavage, P. de Jong, A. Carrano, C. Fields
& J. C. Venter doi:10.1038/ng0492-34 Abstract + references|PDF
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Monoallelic expression of the human H19 genepp40 - 44 Yonghui Zhang
& Benjamin Tycko doi:10.1038/ng0492-40 Abstract + references|PDF
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Definition of a consensus binding site for p53pp45 - 49 Wafik S. El-Deiry, Scott E. Kern, Jennifer A. Pietenpol, Kenneth W. Kinzler
& Bert Vogelstein doi:10.1038/ng0492-45 Abstract + references|PDF
(768K)
Human CCAAT displacement protein is homologous to the Drosophila homeoprotein, cutpp50 - 55 Ellis J. Neufeld, David G. Skalnik, Patricia M-J. Lievens
& Stuart H. Orkin doi:10.1038/ng0492-50 Abstract + references|PDF
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Cretinism with combined hormone deficiency caused by a mutation in the PIT1 genepp56 - 58 Ke-ita Tatsumi, Kiyoshi Miyai, Tsugunori Notomi, Kyoko Kaibe, Nobuyuki Amino, Yuji Mizuno
& Hitoshi Kohno doi:10.1038/ng0492-56 Abstract + references|PDF
(291K)
A mutation in adenylosuccinate lyase associated with mental retardation and autistic featurespp59 - 63 Randy L. Stone, Junko Aimi, Bruce A. Barshop, Jaak Jaeken, Georges Van den Berghe, Howard Zalkin
& Jack E. Dixon doi:10.1038/ng0492-59 Abstract + references|PDF
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Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein genepp64 - 67 Stephen R. Dlouhy, Karen Hsiao, Martin R. Farlow, Tatiana Foroud, P. Michael Conneally, Patricia Johnson, Stanley B. Prusiner, M. E. Hodes
& Bernardino Ghetti doi:10.1038/ng0492-64 Abstract + references|PDF
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Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tanglespp68 - 71 Karen Hsiao, Stephen R. Dlouhy, Martin R. Farlow, Carin Cass, Maria Da Costa, P. Michael Conneally, M. E. Hodes, Bernardino Ghetti
& Stanley B. Prusiner doi:10.1038/ng0492-68 Abstract + references|PDF
(480K)
Absence of linkage between the angiotensin converting enzyme locus and human essential hypertensionpp72 - 75 Xavier Jeunemaitre, Richard P. Lifton, Steven C. Hunt, Roger R. Williams
& Jean-Marc Lalouel doi:10.1038/ng0492-72 Abstract + references|PDF
(468K)
