Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. [electronic resource]
Producer: 20021010Description: 1263-71 p. digitalISSN:- 0964-6906
- Adolescent
- Adult
- Blotting, Western
- Child
- Child, Preschool
- Epilepsies, Myoclonic -- genetics
- Genotype
- Haplotypes
- HeLa Cells
- Humans
- Intellectual Disability -- genetics
- Lafora Disease -- genetics
- Mutation, Missense
- Pedigree
- Phenotype
- Protein Tyrosine Phosphatases -- deficiency
- Protein Tyrosine Phosphatases, Non-Receptor
- Sequence Analysis, DNA
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Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.
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