Huda Y. Zoghbi is at the Baylor College of Medicine, One Baylor Plaza, MS225, Houston, Texas 77005, USA and is an Investigator of the Howard Hughes Medical Institute. hzoghbi@bcm.edu
Mutations in SIL1, which encodes a nucleotide exchange factor for the chaperone BiP, cause a progressive multisystem disorder that probably results from abnormal protein quality control in the endoplasmic reticulum.
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