Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Susan F. Kirby"'
Autor:
Glenn Barnes, James F. Gusella, Francis S. Collins, Annemarie Poustka, S. Youngman, Sarah Baxendale, Duncan Shaw, Richard H. Myers, John Valdes, Barbara Jenkins, Marcy E. MacDonald, Karen M. Draths, Sherryl A.M. Taylor, Gillian P. Bates, Lucio H. Castilla, Alan Buckler, Thomas J. Fielder, John J. Wasmuth, Carol Lin, Lakshmi Srinidhi, Nicole A. Datson, Mabel P. Duyao, Christine Ambrose, Susan F. Kirby, Michael R. Altherr, Manju Swaroop, Peter S. Harper, Zdenek Sedlacek, Marc W. Allard, Mike North, Russell G. Snell, Rita Shiang, David E. Housman, Lawrence W. Elmer, Marianne James, Richard Mott, Kathleen Gillespie, Leslie M. Thompson, Laura Riba-Ramirez, Nancy S. Wexler, Deanna M. Church, Günther Zehetner, Scott A. Strobel, Heather MacFarlane, Anna-Maria Frischauf, Mary Anne Anderson, Hans Lehrach, Michael Conlon O'Donovan, Vincent P. Stanton, Kris Blanchard, Danilo A. Tagle, Lynn Doucette-Stamm, Holger Hummerich, Tracey Holloway, Manish A. Shah, Jennifer L. Wales, Nicolet Groot, Peter B. Dervan
Publikováno v:
Cell. 72:971-983
The Huntington's disease (HD) gene has been mapped in 4p16.3 but has eluded identification. We have used haplotype analysis of linkage disequilibrium to spotlight a small segment of 4p16.3 as the likely location of the defect. A new gene, 1715, isola
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1873dad00d376a44a1a9d14831b8246f
https://doi.org/10.1016/0092-8674(93)90585-e
https://doi.org/10.1016/0092-8674(93)90585-e
Autor:
Lon R. Cardon, Susan F. Kirby, Tarmo Puurand, Jagjit Pabial, Sarah E. Hunt, Maido Remm, David Beare, Richard Mott, Ian Dunham, Rocky Ganske, Reedik Mägi, Elisabeth Dawson, Elin Lõhmussaar, Kate Rice, Emma Tinsley, Jaak Vilo, Yuan Chen, Panos Deloukas, Simon Livingstone, Gonçalo R. Abecasis, Ants Kurg, Andres Metspalu, Jana Zernant, Thomas Dibling, Neeme Tõnisson, Marianna Papaspyridonos, Suzannah Bumpstead, David R. F. Carter, David R. Bentley
Publikováno v:
Nature. 418(6897)
DNA sequence variants in specific genes or regions of the human genome are responsible for a variety of phenotypes such as disease risk or variable drug response. These variants can be investigated directly, or through their non-random associations w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96288ced3a97c417f0f36d08b0abbfb0
http://ora.ox.ac.uk/objects/uuid:ca9c0ceb-c3bf-4892-ac59-9c5896981ec9
http://ora.ox.ac.uk/objects/uuid:ca9c0ceb-c3bf-4892-ac59-9c5896981ec9
Autor:
James F. Gusella, Hans Lehrach, Marianne James, Susan F. Kirby, Larry J. Deaven, Francis S. Collins, John Valdes, Günther Zehetner, Richard Mott, Fiona Francis, Gillian P. Bates, Holger Hummerich, Carol Lin, Marcy E. MacDonald, Sarah Baxendale
Publikováno v:
Nature genetics. 4(2)
The quest for the mutation responsible for Huntington's disease (HD) has required an exceptionally detailed analysis of a large part of 4p16.3 by molecular genetic techniques, making this stretch of 2.2 megabases one of the best characterized regions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cee0872f08754ea8382e4ab13427706
https://pubmed.ncbi.nlm.nih.gov/8348156
https://pubmed.ncbi.nlm.nih.gov/8348156