SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2007.00759.x/fullpdf
Reference5 articles.
1. Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31;Lagier-Tourenne;Eur J Hum Genet,2003
2. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone;Anttonen;Nat Genet,2005
3. Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy;Senderek;Nat Genet,2005
4. Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome;Aguglia;Ann Neurol,2000
5. Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders;Jones;Nat Genet,2003
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