The gene for the peripheral myelin protein PMP−22 is a candidate for Charcot−Marie−Tooth disease type 1App159 - 165 Pragna I. Patel, Benjamin B. Roa, Andrew A. Welcher, Raymond Schoener-Scott, Barbara J. Trask, Liu Pentao, G. Jackson Snipes, Carlos A. Garcia, Uta Francke, Eric M. Shooter, James R. Lupski
& Ueli Suter doi:10.1038/ng0692-159 Abstract + references|PDF
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The peripheral myelin gene PMP−22/GAS−3 is duplicated in Charcot−Marie−Tooth disease type 1App166 - 170 L. J. Valentijn, P. A. Bolhuis, I. Zorn, J. E. Hoogendijk, N. van den Bosch, G. W. Hensels, V. P. Stanton Jr., D. E. Housman, K. H. Fischbeck, D. A. Ross, G. A. Nicholson, E. J. Meershoek, H. G. Dauwerse, G. -J. B. van Ommen
& F. Baas doi:10.1038/ng0692-166 Abstract + references|PDF
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The peripheral myelin protein gene PMP−22 is contained within the Charcot−Marie−Tooth disease type 1A duplicationpp171 - 175 V. Timmerman, E. Nelis, W. Van Hul, B.W. Nieuwenhuijsen, K.L. Chen, S. Wang, K. Ben Othman, B. Cullen, R.J. Leach, C.O. Hanemann, P. De Jonghe, P. Raeymaekers, G-J.B. van Ommen, J-J. Martin, H.W. Müller, J.M. Vance, K.H. Fischbeck
& C. Van Broeckhoven doi:10.1038/ng0692-171 Abstract + references|PDF
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Peripheral myelin protein−22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot−Marie−Tooth 1App176 - 179 Norisada Matsunami, Brooke Smith, Linda Ballard, M. William Lensch, Margaret Robertson, Hans Albertsen, C. Oliver Hanemann, Hans W. Müller, Thomas D. Bird, Ray White
& Phillip F. Chance doi:10.1038/ng0692-176 Abstract + references|PDF
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Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate regionpp180 - 187 G. P. Bates, J. Valdes, H. Hummerich, S. Baxendale, D. L. Le Paslier, A. P. Monaco, D. Tagle, M. E. MacDonald, M. Altherr, M. Ross, B. H. Brownstein, D. Bentley, J. J. Wasmuth, J. F. Gusella, D. Cohen, F. Collins
& H. Lehrach doi:10.1038/ng0692-180 Abstract + references|PDF
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Detection of over 98% cystic fibrosis mutations in a Celtic populationpp188 - 191 C. Férec, M.P. Audrezet, B. Mercier, H. Guillermit, P. Moullier, I. Quere
& C. Verlingue doi:10.1038/ng0692-188 Abstract + references|PDF
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Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophypp192 - 195 Catherine Tsilfidis, Alex E. MacKenzie, Gabrielle Mettler, Juana Barceló
& Robert G. Korneluk doi:10.1038/ng0692-192 Abstract + references|PDF
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Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9pp196 - 198 Craig A. Strathdee, Alessandra M.V. Duncan
& Manuel Buchwald doi:10.1038/ng0692-196 Abstract + references|PDF
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Isolation of a candidate gene for Norrie disease by positional cloningpp199 - 203 W. Berger, A. Meindl, T.J.R. van de Pol, F.P.M. Cremers, H.H. Ropers, C. Döerner, A. Monaco, A.A.B. Bergen, R. Lebo, M. Warburg, L. Zergollern, B. Lorenz, A. Gal, E.M. Bleeker-Wagemakers
& T. Meitinger doi:10.1038/ng0692-199 Abstract + references|PDF
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Isolation and characterization of a candidate gene for Norrie diseasepp204 - 208 Z-Y. Chen, R.W. Hendriks, M.A. Jobling, J.F. Powell, X.O. Breakefield, K.B. Sims
& I.W. Craig doi:10.1038/ng0692-204 Abstract + references|PDF
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A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosapp209 - 213 Philip J. Rosenfeld, Glenn S. Cowley, Terri L. McGee, Michael A. Sandberg, Eliot L. Berson
& Thaddeus P. Dryja doi:10.1038/ng0692-209 Abstract + references|PDF
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Evidence for a relationship between Ehlers−Danlos type VII C in humans and bovine dermatosparaxispp214 - 217 B. V. Nusgens, Ch. Verellen-Dumoulin, T. Hermanns-Lê, A. De Paepe, L. Nuytinck, G.E. Piérard
& Ch. M. Lapière doi:10.1038/ng0692-214 Abstract + references|PDF
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Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the −amyloid precursor protein genepp218 - 221 Lydia Hendriks, Cornelia M. van Duijn, Patrick Cras, Marc Cruts, Wim Van Hul, Frans van Harskamp, Andrew Warren, Melvin G. McInnis, Stylianos E. Antonarakis, Jean-Jacques Martin, Albert Hofman
& Christine Van Broeckhoven doi:10.1038/ng0692-218 Abstract + references|PDF
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Isolation of chromosome 21−specific yeast artificial chromosomes from a total human genome librarypp222 - 225 I.M. Chumakov, I. Le Gall, A. Billault, P. Ougen, P. Soularue, S. Guillou, P. Rigault, H. Bui, M.-F. De Tand, E. Barillot, H. Abderrahim, D. Cherif, R. Berger, D. Le Paslier
& D. Cohen doi:10.1038/ng0692-222 Abstract + references|PDF
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Light is a dominant mouse mutation resulting in premature cell deathpp226 - 229 R. Johnson
& I. J. Jackson doi:10.1038/ng0692-226 Abstract + references|PDF
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−amyloid precursor protein gene
