Cerebrotendinous xanthomatosis: Molecular characterization of two Scandinavian sisters

Journal of Internal Medicine

Volumn 252, Issue 3, 2002, Pages 259-264

  Rystedt, E ^a   Olin, M ^a   Seyama, Y ^b   Buchmann, M ^c   Berstad, A ^c   Eggertsen, G ^a   Bjorkhem I ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b OCHANOMIZU UNIVERSITY   (Japan)

^c HAUKELAND UNIVERSITY HOSPITAL   (Norway)

Author keywords

Bile acids; Cholesterol; CYP27A1; Sterol 27 hydroxylase deficiency

Indexed keywords

AMINO ACID; ARGININE; COMPLEMENTARY DNA; GENOMIC DNA; HEME; HISTONE; HOLOENZYME; MUTANT PROTEIN; STEROL 27 HYDROXYLASE; TRYPTOPHAN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CATALYSIS; CELL LINE; CEREBROTENDINOUS XANTHOMATOSIS; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; ENZYME ACTIVITY; EXPRESSION VECTOR; FEMALE; FIBROBLAST CULTURE; GENE MUTATION; GENETIC TRANSFECTION; GENOME ANALYSIS; HUMAN; HUMAN CELL; MUTAGENESIS; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FUNCTION; SCANDINAVIA;

ADULT; AMINO ACID SUBSTITUTION; CELL LINE; CONSANGUINITY; CYTOCHROME P-450 CYP27A1; CYTOCHROME P-450 ENZYME SYSTEM; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; ENZYME ACTIVATION; FATAL OUTCOME; FEMALE; GENES, RECESSIVE; HUMANS; KIDNEY; MENTAL RETARDATION; MUTATION; NUCLEAR FAMILY; SCANDINAVIA; STEROID HYDROXYLASES; TRANSFECTION; XANTHOMATOSIS; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 0036379818     PISSN: 09546820     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2796.2002.01033.x     Document Type: Article

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