Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene. [electronic resource]
Producer: 20020409Description: 281-9 p. digitalISSN:- 0890-8508
- Adolescent
- Adult
- Animals
- Base Sequence
- Child
- Child, Preschool
- Contig Mapping
- Female
- Genotype
- Haplotypes
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Japan
- Lafora Disease -- genetics
- Male
- Molecular Sequence Data
- Mutation
- Polymorphism, Genetic
- Protein Tyrosine Phosphatases -- genetics
- Protein Tyrosine Phosphatases, Non-Receptor
- Regulatory Sequences, Nucleic Acid -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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