Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes
靶向外显子组分析可识别超过 50% 的共济失调相关表型患者的疾病遗传基础。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-018-0007-7
Sun, Miao; Johnson, Amy Knight; Nelakuditi, Viswateja; Guidugli, Lucia; Fischer, David; Arndt, Kelly; Ma, Lan; Sandford, Erin; Shakkottai, Vikram; Boycott, Kym; Warman-Chardon, Jodi; Li, Zejuan; Del Gaudio, Daniela; Burmeister, Margit; Gomez, Christopher M; Waggoner, Darrel J; Das, Soma