Novel cerebrotendinous xanthomatosis mutation causes familial early dementia in Colombia

Biomedica

Volumn 35, Issue 4, 2015, Pages 563-571

  Giraldo Chica, Margarita ^a   Acosta Baena, Natalia ^a   Urbano, Lorena ^a   Velilla, Lina ^a   Lopera, Francisco ^a   Pineda, Nicolás ^a  

^a UNIVERSIDAD DE ANTIOQUIA   (Colombia)

Author keywords

Dementia; Genetics; Schizophrenia; Xanthomatosis

Indexed keywords

CHOLESTANETRIOL 26 MONOOXYGENASE; CYP27A1 PROTEIN, HUMAN; RNA SPLICE SITE;

ADOLESCENT; CASE REPORT; CEREBROTENDINOUS XANTHOMATOSIS; COLOMBIA; DEMENTIA; DIAGNOSTIC IMAGING; EXON; FEMALE; FOLLOW UP; GENE EXPRESSION REGULATION; GENETICS; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MIDDLE AGED; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; ONSET AGE; PARKINSONISM; PEDIGREE; PRESCHOOL CHILD; PSYCHOLOGY; RNA SPLICE SITE;

ADOLESCENT; AGE OF ONSET; CHILD, PRESCHOOL; CHOLESTANETRIOL 26-MONOOXYGENASE; COLOMBIA; DEMENTIA; EXONS; FEMALE; FOLLOW-UP STUDIES; HUMANS; INTELLECTUAL DISABILITY; MALE; MIDDLE AGED; MUTAGENESIS, INSERTIONAL; NEUROIMAGING; NEUROPSYCHOLOGICAL TESTS; PARKINSONIAN DISORDERS; PEDIGREE; RNA SPLICE SITES; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 84981165933     PISSN: 01204157     EISSN: None     Source Type: Journal    
DOI: 10.7705/biomedica.v35i4.2690     Document Type: Article

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