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

<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) with differing repertoires of FG...

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Principais autores: Klatt Regan EM, Bowdin Sarah C, Fenwick Aimee L, Wilkie Andrew OM
Formato: Artigo
Idioma:Inglês
Publicado: BMC 2011-09-01
Series:BMC Medical Genetics
Acceso en liña:http://www.biomedcentral.com/1471-2350/12/122
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