Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

NATURE GENETICS（2012）

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摘要

lbena Jordanova and colleagues report mutations in HINT1 in autosomal recessive axonal neuropathy with neuromyotonia. Using linkage analysis and whole-genome sequencing, they identify 8 mutations in 33 affected families.

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关键词

Disease genetics,Mutation,Neurological disorders,Biomedicine,general,Human Genetics,Cancer Research,Agriculture,Gene Function,Animal Genetics and Genomics

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