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Functional Analysis of TBX5 Missense Mutations Associated with Holt-Oram Syndrome
TBX5 is a T-box transcription factor that plays a critical role in organogenesis. Seven missense mutations in TBX5 have been identified in patients with Holt-Oram syndrome characterized by congenital heart defects and upper limb abnormalities. However, the functional significance and molecular patho...
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| Main Authors: | , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
2002
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1579789/ https://ncbi.nlm.nih.gov/pubmed/12499378 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M208120200 |
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