An arylsulphatase A (ARSA) frameshift mutation (289insG) in metachromatic leukodystrophy (MLD).

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An arylsulphatase A (ARSA) frameshift mutation (289insG) in metachromatic leukodystrophy (MLD).

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http://www.wikidata.org/entity/Q43105983

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2005 nî lūn-bûn

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2005年学术文章

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name

An arylsulphatase A (ARSA) fra ...... hromatic leukodystrophy (MLD).

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An arylsulphatase A

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type

Item

label

An arylsulphatase A (ARSA) fra ...... hromatic leukodystrophy (MLD).

@en

An arylsulphatase A

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prefLabel

An arylsulphatase A (ARSA) fra ...... hromatic leukodystrophy (MLD).

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An arylsulphatase A

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P1476

An arylsulphatase A (ARSA) fra ...... hromatic leukodystrophy (MLD).

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C Phillip Morris

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Kelly J Perkins

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William F Carey

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P2860

Cloning and expression of human arylsulfatase A

Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site

Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype.

An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.

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3-4

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scholarly article

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10.4172/1747-0862.1000003

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http://www.w3.org/2001/XMLSchema#string

P478

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P577

2005-08-19T00:00:00Z

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26328995

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19565006

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2702066

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