Identification and functional characterization of a novel homozygous mutation in KCNMA1 encoding voltage and calcium sensitive potassium channel is associated with dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy
Künye
Yücesan, E., Goncu, B., Aslanger, A. D., Özgül, C., Hasanoğlu, S. ve Yeşil, G. (2020). Identification and functional characterization of a novel homozygous mutation in KCNMA1 encoding voltage and calcium sensitive potassium channel is associated with dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy. European Journal of Human Genetics içinde (344-345. ss.).Özet
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European Journal of Human GeneticsCilt
28Sayı
Supplement: 1Koleksiyonlar
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