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HINT1 mutations define a novel disease entity – autosomal recessive axonal neuropathy with neuromyotonia
Author(s) -
Aminkeng F
Publication year - 2013
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12030
Subject(s) - neuromyotonia , genetics , mutation , medicine , disease , neuroscience , biology , gene , pathology , antibody
Loss‐of‐function mutations in HINT1 cause axonal neuropathy with neuromyotonia Zimoń et al. (2012) Nature Genetics 44 (10):1080–1083.
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