Loss of function mutations in SIL1 cause Marinesco-Sjögren syndrome.
Van Raamsdonk
J M
JM
Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada, V5Z 4H4. jeremy@cmmt.ubc.ca
D000483:Alleles; D000818:Animals; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics* / Q000502:physiology; D006801:Humans; D051379:Mice; D017510:Protein Folding; D012326:RNA Splicing / Q000235:genetics; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*
D020662:Guanine Nucleotide Exchange Factors; C418483:SIL1 protein, human