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A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging
Titin (TTN) is a large gene with 363 exons that encodes a large abundant protein (longest known polypeptide in nature) that is expressed in cardiac and skeletal muscles. TTN has an important role in the sarcomere organization, assembly of muscles, transmission of the force at the Z-line, passive myo...
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| Publicat a: | Intractable Rare Dis Res |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6557229/ https://ncbi.nlm.nih.gov/pubmed/31218166 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2019.01052 |
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