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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. He...

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Autors principals: Fenwick, Aimee L, Bowdin, Sarah C, Klatt, Regan EM, Wilkie, Andrew OM
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2011
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3192734/
https://ncbi.nlm.nih.gov/pubmed/21943124
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-12-122
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