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Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family

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author: Mário Andrea  Graça Fialho  Ignacio del Castillo  H. Caria  Tiago Matos  Óscar Dias 

Publication date March 17, 2011
Language English
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