Literature DB >> 12858531

Causes of clinical diversity in human TBX5 mutations.

T Huang1, J E Lock, A C Marshall, C Basson, J G Seidman, C E Seidman.   

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Year:  2002        PMID： 12858531     DOI： 10.1101/sqb.2002.67.115

Source DB:  PubMed          Journal:  Cold Spring Harb Symp Quant Biol        ISSN： 0091-7451


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  3 in total

Review 1.  Modeling congenital heart disease: lessons from mice, hPSC-based models, and organoids.

Authors:  Kavitha S Rao; Vasumathi Kameswaran; Benoit G Bruneau
Journal:  Genes Dev       Date:  2022-06-01       Impact factor: 12.890

2.  Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?

Authors:  Baoheng Gui; Jesse Slone; Taosheng Huang
Journal:  Front Genet       Date:  2017-11-29       Impact factor: 4.599

3.  Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

Authors:  Johann Böhm; Wolfram Heinritz; Alexander Craig; Mihailo Vujic; Britt-Marie Ekman-Joelsson; Jürgen Kohlhase; Ursula Froster
Journal:  BMC Med Genet       Date:  2008-10-01       Impact factor: 2.103
  3 in total

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