TY - GEN AU - Lu,K AU - Lee,M H AU - Hazard,S AU - Brooks-Wilson,A AU - Hidaka,H AU - Kojima,H AU - Ose,L AU - Stalenhoef,A F AU - Mietinnen,T AU - Bjorkhem,I AU - Bruckert,E AU - Pandya,A AU - Brewer ,H B AU - Salen,G AU - Dean,M AU - Srivastava,A AU - Patel,S B TI - 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 SN - 0002-9297 PY - 2001///0816 KW - ATP Binding Cassette Transporter, Subfamily G, Member 5 KW - ATP Binding Cassette Transporter, Subfamily G, Member 8 KW - ATP-Binding Cassette Transporters KW - chemistry KW - Alternative Splicing KW - genetics KW - Amino Acid Sequence KW - Animals KW - Base Sequence KW - Consanguinity KW - DNA Mutational Analysis KW - DNA, Complementary KW - Exons KW - Female KW - Gene Frequency KW - Humans KW - Introns KW - Lipoproteins KW - Male KW - Molecular Sequence Data KW - Mutation KW - Pedigree KW - Phylogeny KW - Polymorphism, Genetic KW - RNA Splice Sites KW - RNA, Messenger KW - analysis KW - Sequence Alignment KW - Sitosterols KW - blood N1 - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S UR - https://doi.org/10.1086/321294 ER -