Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing. [electronic resource]
Producer: 19970108Description: 1459-67 p. digitalISSN:- 0022-2275
- Adult
- Amino Acid Sequence
- Base Sequence
- Blotting, Southern
- Cholestanetriol 26-Monooxygenase
- Cytochrome P-450 Enzyme System -- genetics
- DNA -- genetics
- DNA Restriction Enzymes
- Female
- Fibroblasts -- enzymology
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Point Mutation
- Polymorphism, Single-Stranded Conformational
- RNA Splicing
- Steroid Hydroxylases -- genetics
- Xanthomatosis, Cerebrotendinous -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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