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

BACKGROUND: 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) with differing repertoires of FGF-binding specificity. H...

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Príomhchruthaitheoirí: Fenwick, A, Bowdin, S, Klatt, R, Wilkie, A
Formáid: Journal article
Teanga:English
Foilsithe / Cruthaithe: BioMed Central 2011