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.

K. Lu,Mihye Lee,S. Hazard,A. Brooks-Wilson,H. Hidaka,H. Kojima,L. Ose,A. Stalenhoef,Tatu Mietinnen,I. Bjorkhem,E. Bruckert,A. Pandya,H. Brewer,G. Salen,M. Dean,A. Srivastava,Shailendra B. Patel

Published 2001 in American Journal of Human Genetics

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