Lu, K

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