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]
Producer: 20010816Description: 278-90 p. digitalISSN:- 0002-9297
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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