DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.

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Identification of a novel DMD duplication identified by a combination of MLPA and targeted exome sequencing Distribution of dystrophin gene deletions in a Chinese population.Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine.

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DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.

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2015 nî lūn-bûn

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2015年の論文

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DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.

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DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.

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DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.

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DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.

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Desheng Liang

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Guosheng Zhu

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Huimin Zhu

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Lingqian Wu

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Ruiyu Ma

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

Ruolan Guo

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

Ying Peng

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P2860

Population frequencies of inherited neuromuscular diseases--a world survey

Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up.

MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.

Experience and strategy for the molecular testing of Duchenne muscular dystrophy.

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study.

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management.

Specificity of expression of the muscle and brain dystrophin gene promoters in muscle and brain cells.

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.

Lesson of the week: late diagnosis of Duchenne's muscular dystrophy presenting as global developmental delay.

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jhg.2015.43

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435-442

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scholarly article

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10.1038/JHG.2015.43

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DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.

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P2860

P2860

DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.

description

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type

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P1433

P1476

P2093

P2860

P2888

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P577

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P698

P356

P1433

P1476

P2093

P2860

P2888

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P31

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P433

P478

P577

P6179

P698