Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

The Clinic for Special Children (CSC) has integrated biochemical and molecular methods into a rural pediatric practice serving Old Order Amish and Mennonite (Plain) children. Among the Plain people, we have used single nucleotide polymorphism (SNP) microarrays to genetically map recessive disorders...

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Detalles Bibliográficos
Autores principales: Puffenberger, Erik G., Jinks, Robert N., Sougnez, Carrie, Cibulskis, Kristian, Willert, Rebecca A., Achilly, Nathan P., Cassidy, Ryan P., Fiorentini, Christopher J., Heiken, Kory F., Lawrence, Johnny J., Mahoney, Molly H., Miller, Christopher J., Nair, Devika T., Politi, Kristin A., Worcester, Kimberly N., Setton, Roni A., DiPiazza, Rosa, Sherman, Eric A., Eastman, James T., Francklyn, Christopher, Robey-Bond, Susan, Rider, Nicholas L., Gabriel, Stacey, Morton, D. Holmes, Strauss, Kevin A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260153/
https://www.ncbi.nlm.nih.gov/pubmed/22279524
http://dx.doi.org/10.1371/journal.pone.0028936

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