SPTLC1 P.leu38arg, a Novel Mutation Associated with Childhood ALS
Biochimica et biophysica acta Molecular and cell biology of lipids（2023）
关键词
Juvenile amyotrophic lateral sclerosis (jALS),Hereditary sensory and autonomic neuropathy type 1A (HSAN 1A),Serine-palmitoyltransferase (SPT)
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