TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability

标题
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability
作者
关键词
TECPR2, Autophagy, HSAN III, IKBKAP, Hereditary spastic paraparesis, Jewish Ashkenazi
出版物
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Volume 20, Issue 1, Pages 69-79
出版商
Elsevier BV
发表日期
2015-10-25
DOI
10.1016/j.ejpn.2015.10.003

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