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Mitochondrial protein alterations in a familial peripheral neuropathy caused by the V144D amino acid mutation in the sphingolipid protein, SPTLC1

Axonal degeneration is the final common path in many neurological disorders. Subsets of neuropathies involving the sensory neuron are known as hereditary sensory neuropathies (HSNs). Hereditary sensory neuropathy type I (HSN-I) is the most common subtype of HSN with autosomal dominant inheritance. I...

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Publicado en:J Chem Biol
Main Authors: Stimpson, Scott E., Coorssen, Jens R., Myers, Simon J.
Formato: Artigo
Idioma:Inglês
Publicado: Springer Berlin Heidelberg 2014
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4286568/
https://ncbi.nlm.nih.gov/pubmed/25584079
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12154-014-0125-x
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