Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees

Journal of Lipid Research

Volumn 42, Issue 2, 2001, Pages 159-169

  Lee, M H ^a   Hazard, S ^a   Carpten, J D ^a   Yi, S ^a   Cohen, J ^a   Gerhardt, G T ^a   Salen, G ^a   Patel, S B ^a  

^a MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

Bile acids; Cholestanol; Cholesterol; Genetics

Indexed keywords

ADULT; AGED; ARTICLE; CEREBROTENDINOUS XANTHOMATOSIS; CHROMOSOME 2Q; CLINICAL ARTICLE; GENE MAPPING; GENETIC LINKAGE; HUMAN; MISSENSE MUTATION; PEDIGREE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOMES, ARTIFICIAL, YEAST; CYTOCHROME P-450 CYP27A1; CYTOCHROME P-450 ENZYME SYSTEM; DNA PRIMERS; EXONS; FEMALE; GENOTYPE; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PREVALENCE; PROTEIN CONFORMATION; SEQUENCE HOMOLOGY, AMINO ACID; STEROID HYDROXYLASES; UNITED STATES; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 0035089564     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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