The most common European HINT1 neuropathy variant phenotype and its case studies
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DOI: 10.3389/fneur.2023.1084335
Abstract: HINT1 is an ubiquitous homodimeric purine phosphoramidase belonging to the histidine-triad superfamily. In neurons, HINT1 stabilizes the interaction of different receptors and regulates the effects of their signaling disturbances. Changes in HINT1 gene are associated… read more here.
Keywords: phenotype; hint1; hint1 neuropathy; common european ... See more keywords