Novel homozygous and compound heterozygous mutations of sterol 27- hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patient from two unrelated families

Journal of Lipid Research

Volumn 38, Issue 5, 1997, Pages 870-879

  Chen, Wengen ^a   Kubota, Shunichiro ^a   Kim, Kyoung Sook ^a   Cheng, Jinyen ^a   Kuriyama, Masaru ^b   Eggertsen, Gösta ^c   Björkhem, Ingemar ^c   Seyama, Yousuke ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b UNIVERSITY OF FUKUI   (Japan)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Cerebrotendinous xanthomatosis; Mutation; Sterol 27 hydroxylase gene; Transfection

Indexed keywords

ADENINE; ARGININE; COMPLEMENTARY DNA; GLUTAMINE; GUANINE; RESTRICTION ENDONUCLEASE; STEROID MONOOXYGENASE;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

CYTOCHROME P-450 CYP27A1; CYTOCHROME P-450 ENZYME SYSTEM; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; JAPAN; MALE; MUTATION; PEDIGREE; STEROID HYDROXYLASES; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 0030957251     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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