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Use of RNA-sequencing to detect abnormal transcription of the collagen α-2 (VI) chain gene that can lead to Bethlem myopathy
Bethlem myopathy (BM) is an autosomal dominant or autosomal recessive disorder and is usually associated with mutations in the collagen VI genes. In the present study, the pathogenicity of a novel splice-site mutation was explored using RNA-sequencing in a family with suspected BM, and a myopathy pa...
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| Publicado no: | Int J Mol Med |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
D.A. Spandidos
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7895517/ https://ncbi.nlm.nih.gov/pubmed/33537799 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/ijmm.2021.4861 |
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