文摘
We sequenced CRBN-thalidomide binding region and analyzed the variants in silico. Eight variants, seven in intron and one in 3′UTR, were identified in the sample. Subjects with TE have rare variants in higher frequency than non-affected subjects. A variant could exert a risk to neurological anomalies independent of thalidomide. Absence of exonic variants confirms Cereblon protein is highly conserved in mammals.