The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene.
Szlago
M
M
FESEN, Laboratorio de Neuroquímica, Buenos Aires, Argentina.
Gallus
G N
GN
Schenone
A
A
Patiño
M E
ME
Sfaelo
Z
Z
Rufa
A
A
Da Pozzo
P
P
Cardaioli
E
E
Dotti
M T
MT
Federico
A
A
D000293:Adolescent; D001118:Argentina; D001921:Brain / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D004083:Cholestanol / Q000097:blood; D002784:Cholesterol / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008928:Mitochondria / Q000201:enzymology / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D014202:Tremor / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D019294:Xanthomatosis, Cerebrotendinous / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology
D005819:Genetic Markers; D004083:Cholestanol; D002784:Cholesterol; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase