Cryptic exon activation causes dystrophinopathy in two Chinese families
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DOI: 10.1038/s41431-020-0578-z
Abstract: The X-linked recessive degenerative disease dystrophinopathy results from variants in the DMD gene. Given the large size and complexity of the DMD gene, molecular diagnosis for all dystrophinopathies remains challenging. Here we identified two cryptic… read more here.
Keywords: causes dystrophinopathy; exon activation; two chinese; activation causes ... See more keywords