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Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation
Calpainopathy, also known as limb girdle muscular dystrophy (LGMD) type 2A (LGMD2A) or LGMD R1 Calpain3-related, is one of the most common genetically characterized forms of limb-girdle muscular dystrophy with a wide range of phenotypic severity. We evaluated a consanguineous family with a clinical...
Kaydedildi:
| Yayımlandı: | J Neuromuscul Dis |
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| Asıl Yazarlar: | , , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2019
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7522968/ https://ncbi.nlm.nih.gov/pubmed/31498126 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-190414 |
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