Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability

BACKGROUND: Intellectual disability (ID) is frequently associated with sleep disorders. Treatment with melatonin demonstrated efficacy, suggesting that, at least in a subgroup of patients, the endogenous melatonin level may not be sufficient to adequately set the sleep-wake cycles. Mutations in ASMT...

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Detalhes bibliográficos
Main Authors: Pagan, Cecile, Botros, Hany Goubran, Poirier, Karine, Dumaine, Anne, Jamain, Stéphane, Moreno, Sarah, de Brouwer, Arjan, Van Esch, Hilde, Delorme, Richard, Launay, Jean-Marie, Tzschach, Andreas, Kalscheuer, Vera, Lacombe, Didier, Briault, Sylvain, Laumonnier, Frédéric, Raynaud, Martine, van Bon, Bregje W, Willemsen, Marjolein H, Leboyer, Marion, Chelly, Jamel, Bourgeron, Thomas
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3034665/
https://ncbi.nlm.nih.gov/pubmed/21251267
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-12-17
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