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...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2007-06-01
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Series: | PLoS Genetics |
Online Access: | http://europepmc.org/articles/PMC1892049?pdf=render |