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• W2056615811 abstract "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 found to exhibit TOF. While both mutant ZFPM2/FOG2 proteins, E30G (c.88A>G) and S657G (c.1968A>G), retain the ability to bind the partner protein GATA4 and repress GATA4 mediated gene activation, the S657G, but not the E30G, mutation is subtly impaired in this function. ZFPM2/FOG2 gene mutations may contribute to some sporadic cases of TOF." @default.
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• W2056615811 date "2003-09-24" @default.
• W2056615811 modified "2023-10-06" @default.
• W2056615811 title "Mutations ofZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot" @default.
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• W2056615811 doi "https://doi.org/10.1002/humu.10261" @default.
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