Age of the F508 cystic fibrosis mutationp216 N. L. Kaplan, P. O. Lewis
& B. S. Weir doi:10.1038/ng1194-216a References|PDF
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Reply to — Age of the F508 cystic fibrosis mutationpp216 - 218 Xavier Estivill, Núria Morral
& Jaume Bertranpetit doi:10.1038/ng1194-216b References|PDF
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Screening for truncated NF1 proteinspp218 - 219 Ruth A. Heim, Lawrence M. Silverman, Rosann A. Farber, Lauren N.W. Kam-Morgan
& Michael C. Luce doi:10.1038/ng1194-218 References|PDF
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Redundant genes?pp219 - 220 Ute Hochgeschwender
& Miles B. Brennan doi:10.1038/ng1194-219 References|PDF
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CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1pp221 - 228 Yoshiya Kawaguchi, Toshihiro Okamoto, Masafumi Taniwaki, Megumi Aizawa, Miho Inoue, Sadao Katayama, Hideshi Kawakami, Shigenobu Nakamura, Masaki Nishimura, Ichiro Akiguchi, Jun Kimura, Shuh Narumiya
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Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXEpp229 - 235 Julia E. Parrish, Ben A. Oostra, Annemieke J.M.H. Verkerk, C. Sue Richards, James Reynolds, Aimee S. Spikes, Lisa G. Shaffer
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Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I genepp236 - 242 Hiroshi Ichinose, Tamae Ohye, Ei-ichi Takahashi, Naohiko Seki, Tada-aki Hori, Masaya Segawa, Yoshiko Nomura, Kotaro Endo, Hajime Tanaka, Shoji Tsuji, Keisuke Fujita
& Toshiharu Nagatsu doi:10.1038/ng1194-236 Abstract + references|PDF
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Xq−Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotypepp243 - 250 Bruce T. Lahn, Nancy Ma, W. Roy Breg, Robert Stratton, Urvashi Surti
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Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) genepp251 - 255 Mayada Tassabehji, Valeria E. Newton
& Andrew P. Read doi:10.1038/ng1194-251 Abstract + references|PDF
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Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequencespp256 - 263 Eiríkur Steingrímsson, Karen J. Moore, M. Lynn Lamoreux, Adrian R. Ferré-D'Amaré, Stephen K. Burley, Debra C. Sanders Zimring, Loren C. Skow, Colin A. Hodgkinson, Heinz Arnheiter, Neal G. Copeland
& Nancy A. Jenkins doi:10.1038/ng1194-256 Abstract + references|PDF
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A second locus for Marfan syndrome maps to chromosome 3p24.2−p25pp264 - 268 Gwenaëlle Collod, Marie-Claude Babron, Guillaume Jondeau, Monique Coulon, Jean Weissenbach, Olivier Dubourg, Jean-Pierre Bourdarias, Catherine Bonaïti-Pellié, Claudine Junien
& Catherine Boileau doi:10.1038/ng1194-264 Abstract + references|PDF
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A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndromepp269 - 274 Maximilian Muenke, Ute Schell, Andreas Hehr, Nathaniel H. Robin, H. Wolfgang Losken, Albert Schinzel, Louise J. Pulleyn, Paul Rutland, William Reardon, Sue Malcolm
& Robin M. Winter doi:10.1038/ng1194-269 Abstract + references|PDF
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Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2pp275 - 279 Ethylin Wang Jabs, Xiang Li, Alan F. Scott, Gregory Meyers, Wendy Chen, Michael Eccles, Jen-i Mao, Lawrence R. Charnas, Charles E. Jackson
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Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11pp280 - 284 Laura P.W. Ranum, Lawrence J. Schut, Julie K. Lundgren, Harry T. Orr
& Dennis M. Livingston doi:10.1038/ng1194-280 Abstract + references|PDF
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PBDX is the XG blood group genepp285 - 290 Nathan A. Ellis, Patricia Tippett, Alison Petty, Marion Reid, Polly A. Weller, Tian Z. Ye, James German, Peter N. Goodfellow, Stephen Thomas
& George Banting doi:10.1038/ng1194-285 Abstract + references|PDF
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A possible vulnerability locus for bipolar affective disorder on chromosome 21q22.3pp291 - 296 Richard E. Straub, Thomas Lehner, Ying Luo, Jo Ellen Loth, Wei Shao, Lawrence Sharpe, Joyce R. Alexander, Kamna Das, Robert Simon, Ronald R. Fieve, Bernard Lerer, Jean Endicott, Jurg Ott, T. Conrad Gilliam
& Miron Baron doi:10.1038/ng1194-291 Abstract + references|PDF
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Murine muscular dystrophy caused by a mutation in the laminin 2 (Lama2) genepp297 - 302 Hong Xu, Xiao-Rong Wu, Ulla M. Wewer
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Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutationpp303 - 307 Martin R. Pollak, Edward M. Brown, Herschel L. Estep, Peter N. McLaine, Olga Kifor, Ji Park, Steven C. Hebert, Christine E. Seidman
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F508 cystic fibrosis mutation
2 (Lama2) gene
