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Splicing mutation in TAZ gene leading to exon skipping and Barth syndrome
Barth syndrome is a monogenic X-linked disorder characterized by cardiomyopathy, skeletal myopathy and neutropenia. It is caused by deficiency of cardiolipin and associated with mutations in the tafazzin gene (TAZ). A 3 years old boy with dilated cardiomyopathy, neutropenia and growth retardation wa...
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| Izdano u: | Acta Myol |
|---|---|
| Glavni autori: | , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Pacini Editore Srl
2021
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8290511/ https://ncbi.nlm.nih.gov/pubmed/34355125 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.36185/2532-1900-047 |
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