Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Lakshmi Srinidhi"'
Autor:
Roderick T. Bronson, Xuebin Qin, Marcy E. MacDonald, Terry J. Lerner, Derek Stout, Tammy Gillis, Lakshmi Srinidhi, Janice A. Espinola, Kristen Auger Antonellis, Shumei Liu, Leah Rae Donahue, Hanlin Gao, Jerry R. Faust, Rose-Mary Boustany, Jonathan L. Haines, Susan L. Cotman
Publikováno v:
The American Journal of Human Genetics. 70(2):324-335
The CLN6 gene that causes variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a recessively inherited neurodegenerative disease that features blindness, seizures, and cognitive decline, maps to 15q21-23. We have used multiallele markers s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1960be1db57833d9890621270d20775
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