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ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A
Diverse mutations in the gene encoding the copper transporter ATP7A lead to X-linked recessive Menkes disease or occipital horn syndrome. Recently, two unique ATP7A mutations, T994I and P1386S, were shown to cause isolated adult-onset distal motor neuropathy. These mutations induce subtle defects in...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4041065/ https://ncbi.nlm.nih.gov/pubmed/24754450 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/nyas.12427 |
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