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Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.
J Neurosci. 2010 Apr 7;30(14):4857-67. doi: 10.1523/JNEUROSCI.6065-09.2010.
J Neurosci. 2010.
PMID: 20371805
Free PMC article.
Penetrance of eye defects in mice heterozygous for mutation of Gli3 is enhanced by heterozygous mutation of Pax6.
Zaki PA, Collinson JM, Toraiwa J, Simpson TI, Price DJ, Quinn JC.
Zaki PA, et al. Among authors: toraiwa j.
BMC Dev Biol. 2006 Oct 9;6:46. doi: 10.1186/1471-213X-6-46.
BMC Dev Biol. 2006.
PMID: 17029624
Free PMC article.
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