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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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| Publicado no: | Mol Pain |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
SAGE Publications
2018
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| Assuntos: | |
| Acesso em linha: | 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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