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Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning

Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurologic condition characterized by significant clinical heterogeneity, ranging from malignant cancers to cognitive deficits. Recent studies have begun to reveal rare genotype–phenotype correlations, suggesting that the specific germlin...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Anastasaki, Corina, Woo, Albert S., Messiaen, Ludwine M., Gutmann, David H.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4553714/
https://ncbi.nlm.nih.gov/pubmed/25788518
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv103
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