Genotype–phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.
| Autor: | 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 |
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| Zdroj: | Human Molecular Genetics; May2002, Vol. 11 Issue 11, p1263-1271, 9p |
| Databáze: | Complementary Index |
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