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RSS FeedsCharacterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients (BMC Medical Genetics)

 
 

11 october 2017 01:51:04

 
Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients (BMC Medical Genetics)
 


Mutations in the KCNJ2 gene encoding the ion channel Kir2.1 have been linked to the Andersen-Tawil syndrome (ATS). Molecular genetic screening performed in a family exhibiting clinical ATS phenotypes unmasked a n...


 
104 viewsCategory: Genetics, Medicine
 
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