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A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site
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.361C>T, p.R121W is at the last residue of the fu...
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| Vydáno v: | Mol Pain |
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| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
SAGE Publications
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6207963/ https://ncbi.nlm.nih.gov/pubmed/30296891 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/1744806918809223 |
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