A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient.

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A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient.

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A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient.

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A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient.

@en

A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient.

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A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient.

@en

A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient.

@nl

P1476

A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient.

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P2093

Gong-Lu Liu

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

Hao Yu

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Yu-Chao Chen

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Zhi-Ying Wu

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P2860

Cardiac involvement in Duchenne and Becker muscular dystrophy

Haploview: analysis and visualization of LD and haplotype maps

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales.

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.

Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomised, double-blind, placebo-controlled trial

Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.

Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy

Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports.

P304

2273-2278

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P31

scholarly article

P356

10.4103/0366-6999.215338

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P407

English

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P478

130

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P577

2017-10-01T00:00:00Z

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28937030

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P932

5634074

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