A novel mutation in the cytochrome P45027 (CYP27) gene caused cerebrotendinous xanthomatosis in a Japanese family

Journal of Lipid Research

Volumn 37, Issue 3, 1996, Pages 631-639

  Okuyama, Eisaku ^a   Tomita, Shuhei ^a   Takeuchi, Hiroaki ^a   Ichikawa, Yoshiyuki ^a  

^a KAGAWA UNIVERSITY   (Japan)

Author keywords

Cerebrotendinous xanthomatosis (CTX); Cholestanol; Cytochrome P45027; Mitochondrial cytochrome P450; Single strand conformation polymorphism; Sterol 27 monooxygenase

Indexed keywords

CHOLESTANOL; CYTOCHROME P450; UNSPECIFIC MONOOXYGENASE;

CASE REPORT; CATARACT; CEREBROTENDINOUS XANTHOMATOSIS; DISEASE SEVERITY; ENZYME ACTIVITY; GENE MUTATION; HUMAN; HUMAN CELL; POINT MUTATION; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; PROTEIN SYNTHESIS; REVIEW; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; CHOLESTANOL; CYTOCHROME P-450 CYP27A1; CYTOCHROME P-450 ENZYME SYSTEM; EXONS; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; JAPAN; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS; STEROID HYDROXYLASES; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 0029961657     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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