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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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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Society for Biochemistry and Molecular Biology
2009
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| Soggetti: | |
| Accesso online: | 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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