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芳基硫酸酯酶A抗体 Background: The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]. Also known as: As 2; As2; ASA; metachromatic leucodystrophy; TISP73; arylsulfatase A; AS A; MLD.
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