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

• Main Authors: Klatt Regan EM (Author), Bowdin Sarah C (Author), Fenwick Aimee L (Author), Wilkie Andrew OM (Author)
• Formato: Libro
• Publicado: BMC, 2011-09-01T00:00:00Z.
• Subjects: article
• Acceso en liña: 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...