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Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy (2005)

Krieger, Michael ; Stendel, Claudia ; Bergmann, Carsten ; [et al.]

[s.l.] : Nature Publishing Group

Nature genetics 37 (2005), S. 1312-1314

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ISSN: 1546-1718

Source: Nature Archives 1869 - 2009

Topics: Biology , Medicine

Notes: [Auszug] SIL1 (also called BAP) acts as a nucleotide exchange factor for the Hsp70 chaperone BiP (also called GRP78), which is a key regulator of the main functions of the endoplasmic reticulum. We found nine distinct mutations that would disrupt the SIL1 protein in individuals with Marinesco-Sjögren ...

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1038/ng1678

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