Metachromatic leucodystrophy: a newly id
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David J. Halsall; Eugene P. Halligan; Terence S. Elsey; Timothy M. Cox
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Article
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1999
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John Wiley and Sons
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English
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The majority of mutations identified in patients with Metachromatic leucodystrophy are unique to individual families. We report here a new mutation in the arylsulphatase A gene (D281Y) identified in a patient with late-onset Metachromatic leucodystrophy. This mutation was inherited in cis with the c