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A Mouse Model for Dominant Collagen VI Disorders: HETEROZYGOUS DELETION OF Col6a3 EXON 16
Dominant and recessive mutations in collagen VI genes, COL6A1, COL6A2, and COL6A3, cause a continuous spectrum of disorders characterized by muscle weakness and connective tissue abnormalities ranging from the severe Ullrich congenital muscular dystrophy to the mild Bethlem myopathy. Herein, we repo...
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主要な著者: | , , , , , , , , , |
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フォーマット: | Artigo |
言語: | Inglês |
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American Society for Biochemistry and Molecular Biology
2014
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主題: | |
オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4036154/ https://ncbi.nlm.nih.gov/pubmed/24563484 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M114.549311 |
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