Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing

Journal of Lipid Research

Volumn 37, Issue 7, 1996, Pages 1459-1467

  Garuti, R ^a   Lelli, N ^a   Barozzini, M ^a   Tiozzo, R ^a   Dotti, M T ^b   Federico, A ^b   Ottomano, A M ^a   Croce, A ^a   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

alternative splicing; CYP27 gene; donor splice site; nucleotide substitution

Indexed keywords

CHOLESTANOL; CHOLESTEROL; OXYGENASE; STEROL;

ADULT; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; CODON; CONTROLLED STUDY; EXON; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; MALE; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; BLOTTING, SOUTHERN; CYTOCHROME P-450 CYP27A1; CYTOCHROME P-450 ENZYME SYSTEM; DNA; DNA RESTRICTION ENZYMES; FEMALE; FIBROBLASTS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA SPLICING; STEROID HYDROXYLASES; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 8944245008     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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