Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis

Journal of Inherited Metabolic Disease

Volumn 25, Issue 6, 2002, Pages 501-513

  Clayton, P T ^a   Verrips, A ^b   Sistermans, E ^b   Mann, A ^a   Mieli Vergani, G ^c   Wevers, R ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALCOHOL; CHENODEOXYCHOLIC ACID; CHENODEOXYCHOLIC ACID DERIVATIVE; CHOLESTANOL; CHOLESTEROL; GLUCURONIDE; STEROL 27 HYDROXYLASE;

ADOLESCENT; ADULT; ANAMNESIS; ARTICLE; ATHEROSCLEROSIS; BILE ACID BLOOD LEVEL; BIOACCUMULATION; CATARACT; CEREBROTENDINOUS XANTHOMATOSIS; CHILD CARE; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE SEVERITY; ENZYME ACTIVITY; FAMILY HISTORY; FOLLOW UP; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; GIANT CELL; HEPATITIS; HOMOZYGOSITY; HUMAN; NERVE DEGENERATION; NEUROLOGIC DISEASE; OBSTRUCTIVE JAUNDICE; SCHOOL CHILD; STOP CODON; URINARY EXCRETION; URINE LEVEL;

ADOLESCENT; ADULT; CHENODEOXYCHOLIC ACID; CHOLESTANOLS; CHOLESTASIS; CHOLIC ACID; CYTOCHROME P-450 CYP27A1; DNA; EXONS; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HEPATITIS; HUMANS; MALE; MUTATION; STEROID HYDROXYLASES; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 12244306965     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1021211520034     Document Type: Article

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