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Lafora disease in a Malaysian with a rare mutation in the EPM2A gene
Lafora disease in a Malaysian with a rare mutation in the EPM2A gene
2019
Sow Kuan Tee
Tien Lee Ong
Azman Aris
Stephanie Mei Ling See
Huey Yin Leong
Mohd Khairul Nizam Mohd Khalid
Viswanathan Shanthi
Keywords:
Medicine
Anesthesia
EPM2A gene
Bioinformatics
Mutation
Lafora disease
Missense mutation
Pathology
Lafora body
Progressive myoclonus epilepsy
Skin biopsy
Laforin
Correction
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