Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: Identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1317, Issue 2, 1996, Pages 119-126

  Chen, Wengen ^a   Kubota, Shunichiro ^a   Nishimura, Yukiko ^a   Nozaki, Shuichi ^b   Yamashita, Shizuya ^b   Nakagawa, Tsutomu ^b   Kameda Takemura, Kaoru ^b   Menju, Masakazu ^b   Matsuzawa, Yuji ^b   Björkhem, Ingemar ^c   Eggertsen, Gösta ^c   Seyama, Yousuke ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Cerebrotendinous xanthomatosis (CTX); Cholestanol; Point mutation; Serum 27 hydroxycholesterol; Sterol 27 hydroxylase

Indexed keywords

CHOLESTANOL; CHOLESTEROL; OXYGENASE; STEROL 27 HYDROXYLASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BIOPSY; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; CONTROLLED STUDY; ENZYME ACTIVITY; FAMILY; FEMALE; FIBROBLAST; GENETIC ANALYSIS; HEREDITY; HUMAN; HUMAN CELL; JAPAN; MALE; POINT MUTATION; PRIORITY JOURNAL; XANTHOMA;

ADRENODOXIN; BINDING SITES; CYTOCHROME P-450 CYP27A1; CYTOCHROME P-450 ENZYME SYSTEM; FEMALE; FIBROBLASTS; GENES, RECESSIVE; HUMANS; JAPAN; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; STEROID HYDROXYLASES; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 0030589062     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(96)00043-9     Document Type: Article

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