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An adult onset metachromatic leukodystrophy with dominant inheritance and normal arylsulphatase A levels

โœ Scribed by G.D.S. Wright; M.K. Patel; J. Mikel


Book ID
118930672
Publisher
Elsevier Science
Year
1988
Tongue
English
Weight
997 KB
Volume
87
Category
Article
ISSN
0022-510X

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Metachromatic leucodystrophy: a newly id
โœ David J. Halsall; Eugene P. Halligan; Terence S. Elsey; Timothy M. Cox ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 23 KB

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