Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis

Clinical Genetics

Volumn 61, Issue 3, 2002, Pages 185-191

  Lamon Fava, S ^a   Schaefer, Ernst J ^a   Garuti, R ^b   Salen, G ^c,d   Calandra, S ^b  

^a TUFTS UNIVERSITY   (United States)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^d VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

27 hydroxylase; Cerebrotendinous xanthomatosis; HDL cholesterol; Mutations

Indexed keywords

AMINO ACID; ANDRENODOXIN; BILE ACID; CHENODEOXYCHOLIC ACID; CHOLESTANOL; GENE PRODUCT; GLUTAMIC ACID; GLYCINE; HEME; MITOCHONDRIAL ENZYME; NUCLEOTIDE; STEROL 27 HYDROXYLASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BILE ACID SYNTHESIS; CASE REPORT; CATARACT; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL FEATURE; DISEASE COURSE; DNA SPLICING; DRUG EFFICACY; ENZYME ACTIVITY; EXON; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE DISRUPTION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; HYPERLIPOPROTEINEMIA TYPE 2; LIPID BLOOD LEVEL; LONG TERM CARE; NEUROLOGIC DISEASE; NUCLEIC ACID BASE SUBSTITUTION; OPEN READING FRAME; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN SYNTHESIS; STOP CODON;

AMINO ACID SUBSTITUTION; BILE; BILE ACIDS AND SALTS; CHOLESTANOL; CHOLESTANOLS; CHOLESTEROL; CYTOCHROME P-450 CYP27A1; FEMALE; HUMANS; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; STEROID HYDROXYLASES; XANTHOMATOSIS, CEREBROTENDINOUS;

INSERTION SEQUENCES;

EID: 0036524146     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610303.x     Document Type: Article

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