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X- Linked Infantile Spinal Muscular Atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype

Shaughnessy, Niamh; Forman, Eva B; Rourke, Declan O’; Lynch, Sally Ann; Lynch, Bryan

期刊名称Neuromuscular Disorders
作者Shaughnessy, Niamh; Forman, Eva B; Rourke, Declan O’; Lynch, Sally Ann; Lynch, Bryan
印刷ISSN0960-8966
文件大小1036.60KB
发表时间2019-11
DOI10.1016/j.nmd.2019.11.004