Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.

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2010 nî lūn-bûn

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2010年の論文

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年學術文章

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2010年學術文章

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2010年學術文章

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name

Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.

@en

Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.

@nl

type

Item

label

Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.

@en

Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.

@nl

prefLabel

Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.

@en

Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.

@nl

P1476

Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.

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P2093

Huiping Shi

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Liang Su

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Shangzhi Huang

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Weimin Zhang

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Yan Meng

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Yun Wang

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Zheng Wang

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P2860

Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24

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

Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases

Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes.

Clustal W and Clustal X version 2.0

Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene

Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region

Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase

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

SIFT: Predicting amino acid changes that affect protein function

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jhg.2010.65

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scholarly article

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10.1038/JHG.2010.65

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2010-06-24T00:00:00Z

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20574428

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