Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy
基因组测序能够诊断和治疗SLC5A6神经病变。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01641-8
Riley, Lisa G; Sabui, Subrata; Said, Hamid M; Niaz, Aram; Girisha, Katta M; Radhakrishnan, Periyasamy; Nampoothiri, Sheela; Yesodharan, Dhanya; Kilo, Tatjana; Smith, Janine; Wong, Rachel S H; Menezes, Manoj P; Gupta, Sachin; Cooper, Sandra T; Balasubramaniam, Shanti