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Biochemical and Functional Characterization of Six SIX1 Branchio-oto-renal Syndrome Mutations

Branchio-oto-renal syndrome (BOR) is an autosomal dominant developmental disorder characterized by hearing loss, branchial arch defects, and renal anomalies. Recently, eight mutations in the SIX1 homeobox gene were discovered in BOR patients. To characterize the effect of SIX1 BOR mutations on the E...

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Autors principals: Patrick, Aaron N., Schiemann, Barbara J., Yang, Kui, Zhao, Rui, Ford, Heide L.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Biochemistry and Molecular Biology 2009
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2742842/
https://ncbi.nlm.nih.gov/pubmed/19497856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.016832
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