Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review
ATP1A3 756 位氨基酸残基的变异会导致一种独特的复发性脑病伴小脑共济失调 (RECA) 表型——两例病例报告及文献综述
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.1772
Biela, Mateusz; Rydzanicz, Malgorzata; Szymanska, Krystyna; Pieniawska-Smiech, Karolina; Lewandowicz-Uszynska, Aleksandra; Chruszcz, Joanna; Benben, Lucyna; Kuzior-Plawiak, Malgorzata; Szyld, Pawel; Jakubiak, Aleksandra; Szenborn, Leszek; Ploski, Rafal; Smigiel, Robert