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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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Bibliographic Details
Main Authors: Fan, Chun, Liu, Mugen, Wang, Qing
Format: Artigo
Language:Inglês
Published: 2002
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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