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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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Foilsithe in:Mol Pain
Main Authors: Shaikh, Samiha S, Nahorski, Michael S, Woods, C Geoffrey
Formáid: Artigo
Teanga:Inglês
Foilsithe: SAGE Publications 2018
Ábhair:
Rochtain Ar Líne: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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