Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.

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description

2013 nî lūn-bûn

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2013年の論文

@ja

2013年学术文章

@wuu

2013年学术文章

@zh

2013年学术文章

@zh-cn

2013年学术文章

@zh-hans

2013年学术文章

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2013年学术文章

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2013年學術文章

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@zh-hant

name

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.

@en

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.

@nl

type

Item

label

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.

@en

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.

@nl

prefLabel

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.

@en

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.

@nl

P1476

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.

@en

P2093

Ah-Ra Ko

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Dong-Kyu Jin

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Hyung-Doo Park

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

Jong-Won Kim

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Se Hwa Kim

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Soo-Youn Lee

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Sung Won Park

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Sung Yoon Cho

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Young Bae Sohn

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P2860

Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene

Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome.

Variable clinical presentation in lysosomal storage disorders.

Prevalence of lysosomal storage disorders.

Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations.

Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

P304

509-517

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P31

scholarly article

P356

10.1002/AJMG.A.35298

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P407

English

P433

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P478

161A

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P50

Chang-Seok Ki

P577

2013-02-08T00:00:00Z

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P698

23401410

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