Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients
Abstract Background 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 novel sequence variant (c.434A > G, p.Y145C) in this gene. The aim...
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BMC,
2017-10-01T00:00:00Z.
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