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. [electronic resource]
- American journal of human genetics Aug 2001
- 278-90 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0002-9297
10.1086/321294 doi
ATP Binding Cassette Transporter, Subfamily G, Member 5 ATP Binding Cassette Transporter, Subfamily G, Member 8 ATP-Binding Cassette Transporters--chemistry Alternative Splicing--genetics Amino Acid Sequence Animals Base Sequence Consanguinity DNA Mutational Analysis DNA, Complementary--genetics Exons--genetics Female Gene Frequency--genetics Humans Introns--genetics Lipoproteins--chemistry Male Molecular Sequence Data Mutation--genetics Pedigree Phylogeny Polymorphism, Genetic--genetics RNA Splice Sites--genetics RNA, Messenger--analysis Sequence Alignment Sitosterols--blood