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The mutations and potential targets of the forkhead transcription factor FOXL2

✍ Scribed by L. Moumné; F. Batista; B.A. Benayoun; J. Nallathambi; M. Fellous; P. Sundaresan; R.A. Veitia

Book ID
116734245
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
409 KB
Volume
282
Category
Article
ISSN
0303-7207

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Differential functional effects of novel
Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients
✍ Jeyabalan Nallathambi; Paul Laissue; Frank Batista; Bérénice A. Benayoun; Corinn 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 286 KB

## Mutations of the transcription factor FOXL2, involved in cranio-facial and ovarian development lead to the Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) in human. Here, we describe nine mutations in the open reading frame of FOXL2. Six of them are novel: c.292T>A (p.Trp98Arg), c.32