Phenotypic Manifestations of Val93Ile Missense Mutation and Its Influence on Kir2.1 Channel Functioning

For the first time, a patient with asymptomatic QT interval prolongation was found to carry missense mutation c.277G>A (p.Val93Ile) in the KCNJ2 gene, described previously only as the cause of a familial form of atrial fibrillation. The corresponding amino acid substitution was introduced into th...

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Veröffentlicht in:	Moscow University biological sciences bulletin 2021-07, Vol.76 (3), p.142-146
Hauptverfasser:	Zhang, H., Glukhov, G. S., Pustovit, K. B., Kacher, Yu. G., Rusinova, V. S., Kiseleva, I. I., Komolyatova, V. N., Makarov, L. M., Zaklyazminskaya, E. V., Sokolova, O. S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino acid substitution Biochemistry Biomedical and Life Sciences Cell Biology Fibrillation KCNJ2 gene Life Sciences Missense mutation Mutation Plant Sciences Potassium channels (inwardly-rectifying) Short Communication Zoology
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