Cryptic exon activation causes dystrophinopathy in two Chinese families
Cryptic exon activation causes dystrophinopathy in two Chinese families
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Publisher
England: Nature Publishing Group
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English
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Publisher
England: Nature Publishing Group
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Contents
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 exon retention variants caused by intronic single nucleotide variants in dystrophinopathy patients...
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Full title
Cryptic exon activation causes dystrophinopathy in two Chinese families
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7316974
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7316974
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-020-0578-z
