Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism

OBJECTIVES—Mutational analysis of the sterol 27-hydroxylase (CYP27) gene was performed on three patients from two Japanese families who had cerebrotendinous xanthomatosis (CTX) associated with parkinsonism.
METHODS—Clinical evaluations, brain MRI studies, and laboratory analyses were completed on th...

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Detalhes bibliográficos
Main Authors: Wakamatsu, N., Hayashi, M., Kawai, H., Kondo, H., Gotoda, Y., Nishida, Y., Kondo, R., Tsuji, S., Matsumoto, T.
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 1999
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Papers
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736478/
https://ncbi.nlm.nih.gov/pubmed/10406988
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