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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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Bibliografiske detaljer
Main Authors: Patrick, Aaron N., Schiemann, Barbara J., Yang, Kui, Zhao, Rui, Ford, Heide L.
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Biochemistry and Molecular Biology 2009
Fag:
Online adgang: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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