The Wilson disease gene is a putative copper transporting P−type ATPase similar to the Menkes genepp327 - 337 Peter C. Bull, Gordon R. Thomas, Johanna M. Rommens, John R. Forbes
& Diane Wilson Cox doi:10.1038/ng1293-327 Abstract + references|PDF
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Mapping, cloning and genetic characterization of the region containing the Wilson disease genepp338 - 343 K. Petrukhin, S. G. Fischer, M. Pirastu, R.E. Tanzi, I. Chernov, M. Devoto, L. M. Brzustowicz, E. Cayanis, E. Vitale, J. J. Russo, D. Matseoane, B. Boukhgalter, W. Wasco, A. L. Figus, J. Loudianos, A. Cao, I. Sternlieb, O. Evgrafov, E. Parano, L. Pavone, D. Warburton, J. Ott, G. K. Penchaszadeh, I. H. Scheinberg
& T.C. Gilliam doi:10.1038/ng1293-338 Abstract + references|PDF
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The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease genepp344 - 350 R.E. Tanzi, K. Petrukhin, I. Chernov, J.L. Pellequer, W. Wasco, B. Ross, D.M. Romano, E. Parano, L. Pavone, L.M. Brzustowicz, M. Devoto, J. Peppercorn, A.I. Bush, I. Sternlieb, M. Pirastu, J.F. Gusella, O. Evgrafov, G.K. Penchaszadeh, B. Honig, I.S. Edelman, M.B. Soares, I.H. Scheinberg
& T.C. Gilliam doi:10.1038/ng1293-344 Abstract + references|PDF
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Mutations in the 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexiapp351 - 358 Rita Shiang, Stephen G. Ryan, Ya-Zhen Zhu, Angelika F. Hahn, Peter O'Connell
& John Jacob Wasmuth doi:10.1038/ng1293-351 Abstract + references|PDF
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Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney diseasepp359 - 362 D.J.M. Peters, L. Spruit, J.J. Saris, D. Ravine, L.A. Sandkuijl, R. Fossdal, J. Boersma, R. van Eijk, S. Nørby, C.D. Constantinou-Deltas, A. Pierides, J.E. Briessenden, R.R. Frants, G.-J.B. van Ommen
& M.H. Breuning doi:10.1038/ng1293-359 Abstract + references|PDF
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Inactivation of WT1 in nephrogenic rests, genetic precursors to Wilms' tumourpp363 - 367 Seon Park, Amy Bernard, Kevin E. Bove, Donald A. Sens, Debra J. Hazen-Martin, A. Julian Garvin
& Daniel A. Haber doi:10.1038/ng1293-363 Abstract + references|PDF
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Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomespp368 - 375 Chris Tyler-Smith, Rebecca J. Oakey, Zoia Larin, Richard B. Fisher, Mark Crocker, Nabeel A. Affara, Malcolm A. Ferguson-Smith, Maximilian Muenke, Orsetta Zuffardi
& Mark A. Jobling doi:10.1038/ng1293-368 Abstract + references|PDF
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Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structurepp376 - 380 Thomas Meitinger, Alfons Meindl, Peer Bork, Burkhart Rost, Chris Sander, Martina Haasemann
& Jan Murken doi:10.1038/ng1293-376 Abstract + references|PDF
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Phosphorylase kinase deficiency in I−strain mice is associated with a frameshift mutation in the subunit muscle isoformpp381 - 385 Angela Schneider, Jutta J. Davidson, Andrea Wüllrich
& Manfred W. Kilimann doi:10.1038/ng1293-381 Abstract + references|PDF
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Linkage mapping of dopa−responsive dystonia (DRD) to chromosome 14qpp386 - 391 Torbjoern G. Nygaard, Kirk C. Wilhelmsen, Neil J. Risch, Deborah L. Brown, Joel M. Trugman, T. Conrad Gilliam, Stanley Fahn
& Daniel E. Weeks doi:10.1038/ng1293-386 Abstract + references|PDF
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Linkage of Bardet−Biedl syndrome to chromosome 16q and evidence for non−allelic genetic heterogeneitypp392 - 396 Anne E. Kwitek-Black, Rivka Carmi, Geoffrey M. Duyk, Kenneth H. Buetow, Khalil Elbedour, Ruti Parvari, Chandra Naidu Yandava, Edwin M. Stone
& Val C. Sheffield doi:10.1038/ng1293-392 Abstract + references|PDF
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Adenovirus mediated expression of therapeutic plasma levels of human factor IX in micepp397 - 402 Theodore A. G. Smith, Michele G. Mehaffey, Dawn B. Kayda, June M. Saunders, Soonpin Yei, Bruce C. Trapnell, Alan McClelland
& Michael Kaleko doi:10.1038/ng1293-397 Abstract + references|PDF
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Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1pp403 - 407 Brett Casey, Marcella Devoto, Kenneth L. Jones
& Andrea Ballabio doi:10.1038/ng1293-403 Abstract + references|PDF
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Constitutional relaxation of insulin−like growth factor II gene imprinting associated with Wilms' tumour and gigantismpp408 - 412 Osamu Ogawa, David M. Becroft, Ian M. Morison, Michael R. Eccles, Jane E. Skeen, David C. Mauger
& Anthony E. Reeve doi:10.1038/ng1293-408 Abstract + references|PDF
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Characterization of molecular defects in xeroderma pigmentosum group Cpp413 - 417 Lei Li, Elise S. Bales, Carolyn A. Peterson
& Randy J. Legerski doi:10.1038/ng1293-413 Abstract + references|PDF
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1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
