- Identification of a Novel Splicing Mutation in the ARSA Gene in a Patient with Late-infantile Form of Metachromatic Leukodystrophy
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Kang DH, Lee DH, Hong YH, Lee ST, Jeon BR, Lee YK, Ki CS, Lee YW
- KMID: 1022044
- Korean J Lab Med.
- 2010 Oct;30(5):516-520.
- doi: 10.3343/kjlm.2010.30.5.516
Metachromatic leukodystrophy (MLD; MIM 250100), a severe neurodegenerative disorder inherited as an autosomal recessive trait, is caused by mutations in the arylsulfatase A (ARSA) gene. Although several germ line ARSA... -
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