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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Detalles Bibliográficos
Autores principales: Zhong, Jingzi, Xie, Yanshu, Dang, Yiwu, Zhang, Jiapeng, Song, Yingru, Lan, Dan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2021
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7895517/
https://www.ncbi.nlm.nih.gov/pubmed/33537799
http://dx.doi.org/10.3892/ijmm.2021.4861

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7895517/
https://www.ncbi.nlm.nih.gov/pubmed/33537799
http://dx.doi.org/10.3892/ijmm.2021.4861

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