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...

Fuld beskrivelse

Na minha lista:
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:
Molecular Basis of Cell and Developmental Biology
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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker