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A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy
scientific article
Author/s
author: Hanna Mierzewska, Monika Bekiesińska-Figatowska, Elżbieta Szczepanik, Alicja Goszczańska, Małgorzata Bednarska-Makaruk, Agnieszka Ługowska
Work details
Publication date
December 31, 2013
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Language
English
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