Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis

Journal of Lipid Research

Volumn 38, Issue 11, 1997, Pages 2322-2334

  Garuti, Rita ^a   Croce, Maria Antonietta ^a   Tiozzo, Roberta ^a   Dotti, Maria Teresa ^b   Federico, Antonio ^b   Bertolini, Stefano ^c   Calandra, Sebastiano ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b UNIVERSITY OF SIENA   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

Author keywords

CYP27 gene; Polymerase chain reaction; Reverse transcription PCR

Indexed keywords

HYDROLASE;

ARTICLE; CEREBROTENDINOUS XANTHOMATOSIS; EXON; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; ITALY; MALE; PRIORITY JOURNAL; STEROIDOGENESIS;

ADULT; BLOTTING, NORTHERN; BLOTTING, SOUTHERN; CYTOCHROME P-450 CYP27A1; CYTOCHROME P-450 ENZYME SYSTEM; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; HETEROZYGOTE; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; PROTEIN BIOSYNTHESIS; RNA SPLICING; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; STEROID HYDROXYLASES; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 0030662148     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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