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Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.
Lu K, Lee MH, Hazard S, Brooks-Wilson A, Hidaka H, Kojima H, Ose L, Stalenhoef AF, Mietinnen T, Bjorkhem I, Bruckert E, Pandya A, Brewer HB Jr, Salen G, Dean M, Srivastava A, Patel SB. Lu K, et al. Am J Hum Genet. 2001 Aug;69(2):278-90. doi: 10.1086/321294. Epub 2001 Jul 9. Am J Hum Genet. 2001. PMID: 11452359 Free PMC article.