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A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family
BACKGROUND: TAB2 is an activator of MAP 3 K7/TAK1, which is required for the IL-1 induced signal pathway. Microdeletions encompassing TAB2 have been detected in various patients with congenital heart defects (CHD), indicating that haploinsufficiency of TAB2 causes CHD. To date, seven variants within...
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| Publicado no: | BMC Cardiovasc Disord |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6971906/ https://ncbi.nlm.nih.gov/pubmed/31959127 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12872-019-01322-1 |
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