Open AccessA novel de novo SPTAN1 nonsense variant causes hereditary motor neuropathy in a Chinese family
Author(s) -
HaiLin Dong,
Lei Chen,
ZhiYing Wu
Publication year - 2020
Publication title -
brain
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 5.142
H-Index - 336
eISSN - 1460-2156
pISSN - 0006-8950
DOI - 10.1093/brain/awaa357
Subject(s) - nonsense , chinese family , genetics , medicine , nonsense mutation , biology , mutation , gene , missense mutation
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