Genetic profile of Brazilian patients with dystrophinopathies.

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Genetic profile of Brazilian patients with dystrophinopathies.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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Genetic profile of Brazilian patients with dystrophinopathies.

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Genetic profile of Brazilian patients with dystrophinopathies.

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label

Genetic profile of Brazilian patients with dystrophinopathies.

@en

Genetic profile of Brazilian patients with dystrophinopathies.

@nl

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Genetic profile of Brazilian patients with dystrophinopathies.

@en

Genetic profile of Brazilian patients with dystrophinopathies.

@nl

P1476

Genetic profile of Brazilian patients with dystrophinopathies

@en

P2093

A Nucci

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C D Marrone

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F Pinto Vairo

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G N Manzoli

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G S Macedo

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L S Ferreira

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L S M Bueno

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L V B Magalhães

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M C França

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M C Machado-Costa

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P2860

The phylogeography of Brazilian Y-chromosome lineages.

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

Dystrophin and mutations: one gene, several proteins, multiple phenotypes.

European Medicines Agency review of ataluren for the treatment of ambulant patients aged 5 years and older with Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.

Ataluren treatment of patients with nonsense mutation dystrophinopathy.

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.

P304

199-203

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scholarly article

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10.1111/CGE.12975

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P433

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

P478

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Jonas Alex Morales Saute

P577

2017-02-22T00:00:00Z

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P698

28116794

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