Pathological impact of SMN 2 mis‐splicing in adult SMA mice
Pathological impact of SMN 2 mis‐splicing in adult SMA mice
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Frankfurt: EMBO Press
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Language
English
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Publisher
Frankfurt: EMBO Press
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Contents
Loss‐of‐function mutations in SMN1 cause spinal muscular atrophy (SMA), a leading genetic cause of infant mortality. The related SMN2 gene expresses suboptimal levels of functional SMN protein, due to a splicing defect. Many SMA patients reach adulthood, and there is also adult‐onset (type IV) SMA. There is currently no animal model for adult‐onset...
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Full title
Pathological impact of SMN 2 mis‐splicing in adult SMA mice
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TN_cdi_proquest_journals_2333634159
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2333634159
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ISSN
1757-4676
E-ISSN
1757-4684
DOI
10.1002/emmm.201302567
