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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Detalles Bibliográficos
Autores principales: Shaikh, Samiha S, Nahorski, Michael S, Woods, C Geoffrey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207963/
https://www.ncbi.nlm.nih.gov/pubmed/30296891
http://dx.doi.org/10.1177/1744806918809223

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207963/
https://www.ncbi.nlm.nih.gov/pubmed/30296891
http://dx.doi.org/10.1177/1744806918809223

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