Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping
使用光学基因组图谱对临床怀疑患有 FSHD 的患者进行面肩肱型肌营养不良症的分子诊断
期刊:Neurology-Genetics
影响因子:3
doi:10.1212/NXG.0000000000200107
Naga M Guruju, Vanessa Jump, Richard Lemmers, Silvere Van Der Maarel, Ruby Liu, Babi R Nallamilli, Suresh Shenoy, Alka Chaubey, Pratik Koppikar, Rajiv Rose, Satish Khadilkar, Madhuri Hegde
