Identification of a Novel VLDLR Variant in the First Report of CAMRQ1 From Africa: Expanding the Spectrum of Cerebellar Ataxia Syndromes
在首例来自非洲的CAMRQ1病例报告中鉴定出一种新的VLDLR变异：扩展了小脑共济失调综合征的谱系
期刊:Human Mutation
影响因子:3.7
doi:10.1155/humu/4661238
Jawabri, Aseel A; Salazar-Villacorta, Ainara; Senghor, Henriette; Ndiaye, Rokhaya; Al-Mehrzi, Alia; Diop, Amadou Gallo; Ndiaye, Moustapha; Ali, Bassam R; Rodriguez Cruz, Pedro M
