Four novel CYP27A1 mutations in seven Italian patients with CTX

European Journal of Neurology

Volumn 17, Issue 10, 2010, Pages 1259-1262

  Gallus, G N ^a   Dotti, M T ^a   Mignarri, A ^a   Rufa, A ^a   Da Pozzo, P ^a   Cardaioli, E ^a   Federico, A ^a  

^a UNIVERSITY OF SIENA   (Italy)

Author keywords

27 hydroxylase; bile acid synthesis; cholestanol

Indexed keywords

CHOLESTANETRIOL 26 MONOOXYGENASE;

ADULT; ARTICLE; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GENE EXPRESSION; GENE MUTATION; HUMAN; ITALY; MALE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CYTOCHROME P-450 CYP27A1; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ITALY; MALE; MUTATION; XANTHOMATOSIS, CEREBROTENDINOUS; YOUNG ADULT;

EID: 77956639398     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2010.03002.x     Document Type: Article

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