A deletion of <it>FGFR2 </it>creating a chimeric IIIb/IIIc exon in a child with Apert syndrome

• Główni autorzy: Klatt Regan EM (Autor), Bowdin Sarah C (Autor), Fenwick Aimee L (Autor), Wilkie Andrew OM (Autor)
• Format: Książka
• Wydane: BMC, 2011-09-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Signalling by fibroblast growth factor receptor type 2 (FGFR2) normally involves a tissue-specific alternative splice choice between two exons (IIIb and IIIc), which generates two receptor isoforms (FGFR2b and FGFR2c respectively) wi...