Genotype–phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype

Ganesh, Subramaniam ; Delgado-Escueta, Antonio V. ; Suzuki, Toshimitsu ; Francheschetti, Silvana ; Riggio, Concetta ; Avanzini, Giuiliano ; Rabinowicz, Adrian ; Bohlega, Saeed ; Bailey, Julia ; Alonso, Maria E. ; Rasmussen, Astrid ; Thomson, Alfredo E. ; Ochoa, Adriana ; Prado, Aurelio J. ; Medina, Marco T. ; Yamakawa, Kazuhiro

Human molecular genetics, 2002-05, Vol.11 (11), p.1263-1271 [Periódico revisado por pares]

Oxford: Oxford University Press

Texto completo disponível