1 results match your criteria: "Addenbrooke's Biomedical Research Centre[Affiliation]"
A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site.
Mol Pain
February 2019
1 Cambridge Institute for Medical Research, Addenbrooke's Biomedical Research Centre, Cambridge, UK.
Bi-allelic dysfunctional mutations in nerve growth factor (NGF) cause the rare human phenotype hereditary sensory and autonomic neuropathy type 5 (HSAN5). We describe a novel NGF mutation in an individual with typical HSAN5 findings. The mutation c.
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