A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): Its effects on pre-mRNA splicing and enzyme activity

Biochemistry

Volumn 37, Issue 43, 1998, Pages 15050-15056

  Chen, Wengen ^a   Kubota, Shunichiro ^a   Ujike, Hiroshi ^b   Ishihara, Takeshi ^b   Seyama, Yousuke ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b OKAYAMA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; COMPLEMENTARY DNA; MESSENGER RNA PRECURSOR; OXYGENASE; SERINE; STEROL 27 HYDROXYLASE; UNCLASSIFIED DRUG; CHOLESTANETRIOL 26 MONOOXYGENASE; CYP27A1 PROTEIN, HUMAN; CYTOCHROME P450; RNA PRECURSOR; STEROID MONOOXYGENASE;

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; PRIORITY JOURNAL; QUANTITATIVE DIAGNOSIS; RNA SPLICING; SEQUENCE ANALYSIS; AMINO ACID SUBSTITUTION; ANIMAL; CELL STRAIN COS1; ENZYME ACTIVATION; ENZYMOLOGY; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; GENETICS; MIDDLE AGED; POINT MUTATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ALTERNATIVE SPLICING; AMINO ACID SUBSTITUTION; ANIMALS; ARGININE; COS CELLS; CYTOCHROME P-450 CYP27A1; CYTOCHROME P-450 ENZYME SYSTEM; DNA, COMPLEMENTARY; ENZYME ACTIVATION; HUMANS; MALE; MIDDLE AGED; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA PRECURSORS; SERINE; STEROID HYDROXYLASES; TRANSCRIPTION, GENETIC; TRANSFECTION; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 0032573015     PISSN: 00062960     EISSN: None     Source Type: Journal    
DOI: 10.1021/bi9807660     Document Type: Article

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