## Communicated by Arnold Munnich Two out of 47 patients with sporadic tetralogy of Fallot (TOF), the most common cyanotic conotruncal heart defect (CTD), showed heterozygous missense mutations of the ZFPM2/FOG2 gene. Knockout mice carrying mutations in the ZFPM2/FOG2 gene have similarly been foun
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot
β Scribed by Antonio Pizzuti; Anna Sarkozy; Anthea L. Newton; Emanuela Conti; Elisabetta Flex; Maria Cristina Digilio; Francesca Amati; Debora Gianni; Caterina Tandoi; Bruno Marino; Merlin Crossley; Bruno Dallapiccola
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 119 KB
- Volume
- 22
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
β¦ Synopsis
FIGURE 3. The E30S and S657G mutations do not signiΒ’cantly impair binding to the partner protein GATA4. A: GST pull-down assay showing retention of wild-type ZFPM2/FOG2, the E30S and S657G mutants by GATA4 N-Β’nger. Input lanes show that equivalent amounts of wild-type and mutant ZFPM2/FOG2 proteins were used. B: Coomassie-stained gel indicating that approximately equal amounts of GST-GATA4 N-Β’nger and GSTwere used in the pull-down assay.
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