COL6A genes transcriptomic by RNAseq and fluidic card tools


Mutations in collagen VI A1, A2, and A3 genes cause collagen VI related myopathies, ranging from the severe Ullrich congenital muscular dystrophy (UCMD) to the milder Bethlem myopathy (BM). COL6A1 gene produces a single transcript. COL6A2 gene is transcribed in multiple alternatively spliced mRNAs that differ in the 5′-untranslated region as well as in the 3′-coding and noncoding sequences. COL6A3 transcription is even more complex with various N-terminal exons subjected to multiple alternative splicing.


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