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.
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| Description | scientific article |
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author: Elżbieta Szczepanik Monika Bekiesińska-Figatowska Hanna Mierzewska Alicja Goszczańska Agnieszka Ługowska Małgorzata Bednarska-Makaruk |
| Publication date | December 31, 2013 |
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