Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis

Journal of Lipid Research

Volumn 37, Issue 3, 1996, Pages 662-672

  Garuti, R ^a   Lelli, N ^a   Barozzini, M ^a   Dotti, M T ^b   Federico, A ^b   Bertolini, S ^c   Calandra, S ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b UNIVERSITY OF SIENA   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

Author keywords

3' flanking region; CYP27 gene; reverse PCR

Indexed keywords

OXYGENASE;

ADULT; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; DATA ANALYSIS; EARLY DIAGNOSIS; EXON; FEMALE; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; NORTHERN BLOTTING; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW; SOUTHERN BLOTTING;

ADULT; BASE SEQUENCE; BLOTTING, NORTHERN; BLOTTING, SOUTHERN; CELLS, CULTURED; CYTOCHROME P-450 CYP27A1; CYTOCHROME P-450 ENZYME SYSTEM; FEMALE; GENETIC SCREENING; HETEROZYGOTE; HUMANS; INTRONS; ITALY; MOLECULAR SEQUENCE DATA; NUCLEIC ACID CONFORMATION; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; STEROID HYDROXYLASES; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 0029913443     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

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