Are X−linked cutis laxa and Menkes disease allelic?p6 Barbara Levinson, Jane Gitschier, Christopher Vulpe, Susan Whitney, Samuel Yang
& Seymour Packman doi:10.1038/ng0193-6 References|PDF
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Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper−transporting ATPasepp7 - 13 Christopher Vulpe, Barbara Levinson, Susan Whitney, Seymour Packman
& Jane Gitschier doi:10.1038/ng0193-7 Abstract + references|PDF
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Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding proteinpp14 - 19 Jamel Chelly, Zeynep Tümer, Tønne Tønnesen, Anne Petterson, Yumiko Ishikawa-Brush, Niels Tommerup, Nina Horn
& Anthony P. Monaco doi:10.1038/ng0193-14 Abstract + references|PDF
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Isolation of a partial candidate gene for Menkes disease by positional cloningpp20 - 25 Julian F. B. Mercer, Janie Livingston, Bryan Hall, Jennifer A. Paynter, Catherine Begy, Settara Chandrasekharappa, Paul Lockhart, Andrew Grimes, Mrinal Bhave, David Siemieniak
& Thomas W. Glover doi:10.1038/ng0193-20 Abstract + references|PDF
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Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2pp26 - 30 May Tassabehji, Andrew P. Read, Valerie E. Newton, Michael Patton, Peter Gruss, Rodney Harris
& Tom Strachan doi:10.1038/ng0193-26 Abstract + references|PDF
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A point mutation in the FMR-1 gene associated with fragile X mental retardationpp31 - 35 Kristel De Boulle, Annemieke J.M.H. Verkerk, Edwin Reyniers, Lieve Vits, Jan Hendrickx, Bernadette Van Roy, Feikje Van Den Bos, Esther de Graaff, Ben A. Oostra
& Patrick J. Willems doi:10.1038/ng0193-31 Abstract + references|PDF
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Tissue specific expression of FMR−1 provides evidence for a functional role in fragile X syndromepp36 - 43 Heather L. Hinds, Claude T. Ashley, James S. Sutcliffe, David L. Nelson, Stephen T. Warren, David E. Housman
& Martin Schalling doi:10.1038/ng0193-36 Abstract + references|PDF
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A recombination−based assay demonstrates that the fragile X sequence is transcribed widely during developmentpp44 - 48 Andrzej J. Hanzlik, Malgorzata M. Osemlak-Hanzlik, Michael A. Hauser
& David M. Kurnit doi:10.1038/ng0193-44 Abstract + references|PDF
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Diminished support for linkage between manic depressive illness and X−chromosome markers in three Israeli pedigreespp49 - 55 Miron Baron, Nelson F. Freimer, Neil Risch, Bernard Lerer, Joyce R. Alexander, Richard E. Straub, Susha Asokan, Kamna Das, Amy Peterson, Jean Amos, Jean Endicott, Jurg Ott
& T. Conrad Gilliam doi:10.1038/ng0193-49 Abstract + references|PDF
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Large deletions and other gross forms of chromosome imbalance compatible with viability and fertility in the mousepp56 - 61 B.M. Cattanach, M.D. Burtenshaw, C. Rasberry
& E.P. Evans doi:10.1038/ng0193-56 Abstract + references|PDF
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Neurofibromatosis type 1 gene mutations in neuroblastomapp62 - 66 Inge The, Anita E. Murthy, Gregory E. Hannigan, Lee B. Jacoby, Anil G. Menon, James F. Gusella
& Andre Bernards doi:10.1038/ng0193-62 Abstract + references|PDF
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Evidence for a new tumour suppressor locus (DBM) in human B−cell neoplasia telomeric to the retinoblastoma genepp67 - 72 Alison G. Brown, Fiona M. Ross, Eimear M. Dunne, C. Michael Steel
& Elizabeth M. Weir-Thompson doi:10.1038/ng0193-67 Abstract + references|PDF
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The molecular basis of the human serum paraoxonase activity polymorphismpp73 - 76 Richard Humbert, David A. Adler, Christine M. Disteche, Christopher Hassett, Curtis J. Omiecinski
& Clement E. Furlong doi:10.1038/ng0193-73 Abstract + references|PDF
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Independent mutations of the human CD3− gene resulting in a T cell receptor/CD3 complex immunodeficiencypp77 - 81 Claire Soudais, Jean-Pierre de Villartay, Françoise Le Deist, Alain Fischer
& Barbara Lisowska-Grospierre doi:10.1038/ng0193-77 Abstract + references|PDF
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A human pseudoautosomal gene, ADP/ATP translocase, escapes X−inactivation whereas a homologue on Xq is subject to X−inactivationpp82 - 87 Katrin Schiebel, Birgit Weiss, Doris Wöhrle
& Gudrun Rappold doi:10.1038/ng0193-82 Abstract + references|PDF
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Structure and physical map of 64 variable segments in the 3' 0.8−megabase region of the human immunoglobulin heavy−chain locuspp88 - 94 Fumihiko Matsuda, Euy Kyun Shin, Hitoshi Nagaoka, Ryusuke Matsumura, Makoto Haino, Yosho Fukita, Shigeo Taka-ishi, Takashi Imai, John H. Riley, Rakesh Anand, Eiichi Soeda
& Tasuku Honjo doi:10.1038/ng0193-88 Abstract + references|PDF
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gene resulting in a T cell receptor/CD3 complex immunodeficiency
