期刊
EUROPEAN JOURNAL OF NEUROLOGY
卷 20, 期 5, 页码 e67-e69出版社
WILEY-BLACKWELL
DOI: 10.1111/ene.12089
关键词
2-bp deletion in codon 178; familial case; HSAN; novel gene mutation; pan-autonomic failure; prion disease; sensory neuropathy; stop codon at codon 195