Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2

OBJECTIVE: To describe the clinical and neurophysiologic phenotype of a family with hereditary sensory and autonomic neuropathy type 1 (HSANI) due to a novel mutation in SPTLC2 and to characterize the biochemical properties of this mutation. METHODS: We screened 107 patients with HSAN who were negat...

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Main Authors: Murphy, Sinéad M., Ernst, Daniela, Wei, Yu, Laurà, Matilde, Liu, Yo-Tsen, Polke, James, Blake, Julian, Winer, John, Houlden, Henry, Hornemann, Thorsten, Reilly, Mary M.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3716354/
https://ncbi.nlm.nih.gov/pubmed/23658386
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e318295d789
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