芳香基硫酸酯酶1抗体
2015-01-22 10:28
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芳香基硫酸酯酶1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; arsA; ARSA_HUMAN; arylsulfatase A; Arylsulfatase A component C; AS A; Cerebroside-sulfatase; MGC125207; MLD.芳香基硫酸酯酶1抗体
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