Genomic mismatch scanning: a new approach to genetic linkage mappingpp11 - 18 Stanley F. Nelson, John H. McCusker, Mark A. Sander, Yun Kee, Paul Modrich
& Patrick O. Brown doi:10.1038/ng0593-11 Abstract + references|PDF
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Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targetingpp19 - 26 Elena I. Rugarli, Beat Lutz, Shigeru C. Kuratani, Stefan Wawersik, Giuseppe Borsani, Andrea Ballabio
& Gregor Eichele doi:10.1038/ng0593-19 Abstract + references|PDF
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Direct gene transfer of human CFTR into human bronchial epithelia of xenografts with E1−deleted adenovirusespp27 - 34 John F. Engelhardt, Yiping Yang, Leslie D. Stratford-Perricaudet, Edward D. Allen, Karen Kozarsky, Michel Perricaudet, James R. Yankaskas
& James M. Wilson doi:10.1038/ng0593-27 Abstract + references|PDF
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Production of a severe cystic fibrosis mutation in mice by gene targetingpp35 - 41 Rosemary Ratcliff, Martin J. Evans, Alan W. Cuthbert, Lesley J. MacVinish, Diane Foster, Janice R. Anderson
& William H. Colledge doi:10.1038/ng0593-35 Abstract + references|PDF
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Gain of function mutations in p53pp42 - 46 Dirk Dittmer, Sibani Pati, Gerard Zambetti, Shelley Chu, Angelika K. Teresky, Mary Moore, Cathy Finlay
& Arnold J. Levine doi:10.1038/ng0593-42 Abstract + references|PDF
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Genetic linkage of familial open angle glaucoma to chromosome 1q21−q31pp47 - 50 Val C. Sheffield, Edwin M. Stone, Wallace L.M. Alward, Arlene V. Drack, A. Tim Johnson, Luan M. Streb
& Brian E. Nichols doi:10.1038/ng0593-47 Abstract + references|PDF
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A new locus for autosomal dominant retinitis pigmentosa on chromosome 7ppp51 - 53 Chris F. Inglehearn, Simon A. Carter, T.Jeffery Keen, Janet Lindsey, Anthea M. Stephenson, Rumaisa Bashir, May Al-Maghtheh, Anthony T. Moore, Marcelle Jay, Alan C. Bird
& Shomi S. Bhattacharya doi:10.1038/ng0593-51 Abstract + references|PDF
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Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7qpp54 - 58 Siobhán A. Jordan, G. Jane Farrar, Paul Kenna, Marian M. Humphries, Denise M. Sheils, Rajendra Kumar-Singh, Elizabeth M. Sharp, Nuria Soriano, Carmen Ayuso, Javier Benitez
& Peter Humphries doi:10.1038/ng0593-54 Abstract + references|PDF
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A molecular variant of angiotensinogen associated with preeclampsiapp59 - 61 K. Ward, A. Hata, X. Jeunemaitre, C. Helin, L. Nelson, C. Namikawa, P. F. Farrington, M. Ogasawara, K. Suzumori, S. Tomoda, S. Berrebi, M. Sasaki, P. Corvol, R.P. Lifton
& J.-M. Lalouel doi:10.1038/ng0593-59 Abstract + references|PDF
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A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosapp62 - 66 Angela M. Christiano, Daniel S. Greenspan, Guy G. Hoffman, Xin Zhang, Yoshiko Tamai, Andrew N. Lin, Harry C. Dietz, Alain Hovnanian
& Jouni Uitto doi:10.1038/ng0593-62 Abstract + references|PDF
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A tandem duplication in the D−loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathiespp67 - 71 Martin Brockington, Mary G. Sweeney, Simon R. Hammans, John A. Morgan-Hughes
& Anita E. Harding doi:10.1038/ng0593-67 Abstract + references|PDF
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Origin of the expansion mutation in myotonic dystrophypp72 - 76 Georges Imbert, Christine Kretz, Keith Johnson
& Jean-Louis Mandel doi:10.1038/ng0593-72 Abstract + references|PDF
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An alternative dystrophin transcript specific to peripheral nervepp77 - 81 Timothy J. Byers, Hart G. W. Lidov
& Louis M. Kunkel doi:10.1038/ng0593-77 Abstract + references|PDF
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Dystrophin expression in the human retina is required for normal function as defined by electroretinographypp82 - 86 De-Ann M. Pillers, Dennis E. Bulman, Richard G. Weleber, Dayle A. Sigesmund, Maria A. Musarella, Berkley R. Powell, William H. Murphey, Carol Westall, Carole Panton, Laurence E. Becker, Ronald G. Worton
& Peter N. Ray doi:10.1038/ng0593-82 Abstract + references|PDF
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New mdx mutation disrupts expression of muscle and nonmuscle isoforms of dystrophinpp87 - 93 Gregory A. Cox, Stephanie F. Phelps, Verne M. Chapman
& Jeffrey S. Chamberlain doi:10.1038/ng0593-87 Abstract + references|PDF
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IGF2 is parentally imprinted during human embryogenesis and in the Beckwith−Wiedemann syndromepp94 - 97 Rolf Ohlsson, Anders Nyström, Susan Pfeifer-Ohlsson, Virpi Töhönen, Fredrik Hedborg, Paul Schofield, Folke Flam
& Tomas J. Ekström doi:10.1038/ng0593-94 Abstract + references|PDF
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Parental genomic imprinting of the human IGF2 genepp98 - 101 Nick Giannoukakis, Cheri Deal, Jean Paquette, Cynthia G. Goodyer
& Constantin Polychronakos doi:10.1038/ng0593-98 Abstract + references|PDF
(456K)
Corrigendum: A de novo pathological point mutation at the 21−hydroxylase locus: implications for gene conversion in the human genomep101 doi:10.1038/ng0593-101 PDF
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