ISSN:
1546-1718
Source:
Nature Archives 1869 - 2009
Topics:
Biology
,
Medicine
Notes:
[Auszug] We identified the gene underlying Marinesco-Sjögren syndrome, which is characterized by cerebellar ataxia, progressive myopathy and cataracts. We identified four disease-associated, predicted loss-of-function mutations in SIL1, which encodes a nucleotide exchange factor for the heat-shock ...
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1038/ng1677
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