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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Patrick, Aaron N., Schiemann, Barbara J., Yang, Kui, Zhao, Rui, Ford, Heide L.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2009
Assuntos:
Molecular Basis of Cell and Developmental Biology
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados