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المؤلفون: 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
المصدر: The American Journal of Human Genetics. 70(2):324-335
مصطلحات موضوعية: Costa Rica, Male, Batten disease, DNA Mutational Analysis, Molecular Sequence Data, Biology, Frameshift mutation, Exon, Mice, Gene Frequency, Neuronal Ceroid-Lipofuscinoses, medicine, Genetics, Animals, Humans, Genetics(clinical), Amino Acid Sequence, RNA, Messenger, Cognitive decline, Genetics (clinical), Chromosomes, Human, Pair 15, Polymorphism, Genetic, Base Sequence, Haplotype, Chromosome Mapping, Membrane Proteins, Exons, Articles, medicine.disease, Venezuela, Stop codon, Pedigree, Haplotypes, CLN8, Mutation, Neuronal ceroid lipofuscinosis, Female, Sequence Alignment, Gene Deletion
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المؤلفون: 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
المصدر: Cell. 72:971-983
مصطلحات موضوعية: Genetics, education.field_of_study, Huntingtin, Locus (genetics), Biology, medicine.disease, Myotonic dystrophy, Molecular biology, General Biochemistry, Genetics and Molecular Biology, Huntington's disease, medicine, Huntingtin Protein, Dynamic mutation, Atrophin-1, education, Trinucleotide repeat expansion
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1873dad00d376a44a1a9d14831b8246f
https://doi.org/10.1016/0092-8674(93)90585-e