FGFR2 mutations in Pfeiffer syndromep108 Elisabeth Lajeunie, Hong Wei Ma, Jacky Bonaventure, Arnold Munnich, Martine Le Merrer
& Dominique Renier doi:10.1038/ng0295-108 References|PDF
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An imprinted gene(s) for diabetes?pp110 - 112 I. Karen Temple, Rowena S. James, John A. Crolla, Fiona L. Sitch, Patricia A. Jacobs, W. Martin Howell, Peter Betts, J. David Baum
& Julian P.H. Shield doi:10.1038/ng0295-110 References|PDF
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SMA genes: deleted and duplicatedpp112 - 113 Mani S. Mahadevan, Robert G. Korneluk, Natalie Roy, Alex MacKenzie
& Joh-E Ikeda doi:10.1038/ng0295-112 References|PDF
(185K)
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorderspp115 - 125 Gabriele Dodt, Nancy Braverman, Candice Wong, Ann Moser, Hugo W. Moser, Paul Watkins, David Valle
& Stephen J. Gould doi:10.1038/ng0295-115 Abstract + references|PDF
(1,682K)
Gene therapy in a xenograft model of cystic fibrosis lung corrects chloride transport more effectively than the sodium defectpp126 - 131 Mitchell J. Goldman, Yiping Yang
& James M. Wilson doi:10.1038/ng0295-126 Abstract + references|PDF
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The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardationpp132 - 140 Jonathan Flint, Andrew O.M. Wilkie, Veronica J. Buckle, Robin M. Winter, Anthony J. Holland
& Heather E. McDermid doi:10.1038/ng0295-132 Abstract + references|PDF
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Ataxia with isolated vitamin E deficiency is caused by mutations in the −tocopherol transfer proteinpp141 - 145 Karim Ouahchi, Makoto Arita, Herbert Kayden, Fayçal Hentati, Mongi Ben Hamida, Ronald Sokol, Hiroyuki Arai, Keizo Inoue, Jean-Louis Mandel
& Michel Koenig doi:10.1038/ng0295-141 Abstract + references|PDF
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An autosomal locus predisposing to deletions of mitochondrial DNApp146 - 151 Anu Suomalainen, Jyrki Kaukonen, Patrizia Amati, Ritva Timonen, Matti Haltia, Jean Weissenbach, Massimo Zeviani, Hannu Somer
& Leena Peltonen doi:10.1038/ng0295-146 Abstract + references|PDF
(671K)
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder populationpp152 - 159 Neil Risch, Deborah de Leon, Laurie Ozelius, Patricia Kramer, Laura Almasy, Burton Singer, Stanley Fahn, Xandra Breakefield
& Susan Bressman doi:10.1038/ng0295-152 Abstract + references|PDF
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Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor genepp160 - 164 Hannie Kremer, Robert Kraaij, Sergio P.A. Toledo, Miriam Post, Julia B. Fridman, Cesar Y. Hayashida, Margo van Reen, Edwin Milgrom, Hans-Hilger Ropers, Edwin Mariman, Axel P.N. Themmen
& Han G. Brunner doi:10.1038/ng0295-160 Abstract + references|PDF
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Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndromepp165 - 172 Andrew O.M. Wilkie, Sarah F. Slaney, Michael Oldridge, Michael D. Poole, Geraldine J. Ashworth, Anthony D. Hockley, Richard D. Hayward, David J. David, Louise J. Pulleyn, Paul Rutland, Susan Malcolm, Robin M. Winter
& William Reardon doi:10.1038/ng0295-165 Abstract + references|PDF
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Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypespp173 - 176 Paul Rutland, Louise J. Pulleyn, William Reardon, Michael Baraitser, Richard Hayward, Barry Jones, Sue Malcolm, Robin M. Winter, Michael Oldridge, Sarah F. Slaney, Michael D. Poole
& Andrew O.M. Wilkie doi:10.1038/ng0295-173 Abstract + references|PDF
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Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage resolvasespp177 - 183 Robert D. Mashal, Jason Koontz
& Jeffrey Sklar doi:10.1038/ng0295-177 Abstract + references|PDF
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The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally splicedpp184 - 190 Christine N. Tennyson, Henry J. Klamut
& Ronald G. Worton doi:10.1038/ng0295-184 Abstract + references|PDF
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Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic micepp191 - 196 Peter M. Bingham, Marion O. Scott, Suping Wang, Michael J. McPhaul, Elizabeth M. Wilson, James Y. Garbern, Diane E. Merry
& Kenneth H. Fischbeck doi:10.1038/ng0295-191 Abstract + references|PDF
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Rescue of neurophysiological phenotype seen in PrP null mice by transgene encoding human prion proteinpp197 - 201 Miles A. Whittington, Katie C.L. Sidle, Ian Gowland, Julie Meads, Andrew F. Hill, Mark S. Palmer, John G.R. Jefferys
& John Collinge doi:10.1038/ng0295-197 Abstract + references|PDF
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Mouse model of X−linked chronic granulomatous disease, an inherited defect in phagocyte superoxide productionpp202 - 209 Jonathan D. Pollock, David A. Williams, Mary A.C. Gifford, Ling Lin Li, Xunxiang Du, Jason Fisherman, Stuart H. Orkin, Claire M. Doerschuk
& Mary C. Dinauer doi:10.1038/ng0295-202 Abstract + references|PDF
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The Wilson disease gene: spectrum of mutations and their consequencespp210 - 217 Gordon R. Thomas, John R. Forbes, Eve A. Roberts, John M. Walshe
& Diane W. Cox doi:10.1038/ng0295-210 Abstract + references|PDF
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Erratum: A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancerp218 doi:10.1038/ng0295-218a PDF
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Erratum: Establishing the identity of Anna Anderson Manahanp218 doi:10.1038/ng0295-218b PDF
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−tocopherol transfer protein
