Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.

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Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.

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2017 nî lūn-bûn

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2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh

2017年學術文章

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Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.

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Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.

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Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.

@en

Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.

@nl

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Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.

@en

Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.

@nl

P1476

Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea

@en

P2093

Hyung Jun Park

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Jung Hwan Lee

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Se Hoon Kim

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

Seung Min Kim

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P2860

Collagen VI related muscle disorders

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.

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.

Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees.

Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing.

"Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies.

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

Natural history of pulmonary function in collagen VI-related myopathies

P304

331-339

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P31

scholarly article

P356

10.3988/JCN.2017.13.4.331

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P433

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

P478

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P50

Ha Young Shin

Young-Chul Choi

P577

2017-08-01T00:00:00Z

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P698

28831785

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P932

5653620

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