Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans

We observed a severe autosomal recessive movement disorder in mice used within our laboratory. We pursued a series of experiments to define the genetic lesion underlying this disorder and to identify a cognate disease in humans with mutation at the same locus. Through linkage and sequence analysis w...

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Autori principali: van de Leemput, Joyce, Chandran, Jayanth, Knight, Melanie A, Holtzclaw, Lynne A, Scholz, Sonja, Cookson, Mark R, Houlden, Henry, Gwinn-Hardy, Katrina, Fung, Hon-Chung, Lin, Xian, Hernandez, Dena, Simon-Sanchez, Javier, Wood, Nick W, Giunti, Paola, Rafferty, Ian, Hardy, John, Storey, Elsdon, Gardner, R. J. McKinlay, Forrest, Susan M, Fisher, Elizabeth M. C, Russell, James T, Cai, Huaibin, Singleton, Andrew B
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2007
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1892049/
https://ncbi.nlm.nih.gov/pubmed/17590087
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.0030108
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