Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis

Human Genetics

Volumn 100, Issue 2, 1997, Pages 284-286

  Verrips, Aad ^a   Steenbergen Spanjers, Gerry C H ^a   Luyten, Jan A F M ^a   Wevers, Ron A ^a   Wokke, John H J ^b   Gabreëls, Fons J M ^a   Wolthers, Bert G ^c   Van Den Heuvel, Lambert P W J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; OXYGENASE;

ADULT; AMINO ACID SEQUENCE; ARTICLE; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE MUTATION; HUMAN; INTRON; MALE; NETHERLANDS; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL;

ADULT; CYTOCHROME P-450 CYP27A1; CYTOCHROME P-450 ENZYME SYSTEM; EXONS; FEMALE; HUMANS; MALE; MIDDLE AGED; NETHERLANDS; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA SPLICING; STEROID HYDROXYLASES; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 0030842375     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050506     Document Type: Article

References (12)

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