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Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome

✍ Scribed by Leroy, Chrystel; Fouveaut, Corinne; Leclercq, Sandrine; Jacquemont, Sébastien; Boullay, Hélène Du; Lespinasse, James; Delpech, Marc; Dupont, Jean-Michel; Hardelin, Jean-Pierre; Dodé, Catherine

Book ID: 109847775
Publisher: Nature Publishing Group
Year: 2008
Tongue: English
Weight: 92 KB
Volume: 16
Category: Article
ISSN: 1018-4813
DOI: 10.1038/ejhg.2008.15

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FIGURE 3. The E30S and S657G mutations do not signi¢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-¢nger. Input lanes show that equivalent amounts of wild-type and mutant ZFPM2/FOG2 proteins

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## 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