Cerebrotendinous xanthomatosis: A family study of sterol 27-hydroxylase mutations and pharmacotherapy

QJM: An International Journal of Medicine

Volumn 89, Issue 1, 1996, Pages 55-63

  Watts, G F ^a,e   Mitchell, W D ^b   Bending, J J ^c   Reshef, A ^d   Leitersdorf, E ^d  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c EASTBOURNE DISTRICT GENERAL HOSPITAL   (United Kingdom)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^e ROYAL PERTH HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

BILE ACID; CHENODEOXYCHOLIC ACID; CHOLESTANOL; CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; OXYGENASE; SIMVASTATIN; STEROL; TRIACYLGLYCEROL;

ADULT; ARTICLE; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL TRIAL; EXON; FAMILY STUDY; GENOTYPE; HETEROZYGOTE; HUMAN; HYPERLIPIDEMIA; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NONSENSE MUTATION; PRIORITY JOURNAL; UNITED KINGDOM;

EID: 0030023244     PISSN: 00335622     EISSN: None     Source Type: Journal    
DOI: 10.1093/oxfordjournals.qjmed.a030138     Document Type: Article

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