Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates

Hereditary sensory and autonomic neuropathy (HSAN) type II is an autosomal recessive disorder characterized by impairment of pain, temperature, and touch sensation owing to reduction or absence of peripheral sensory neurons. We identified two large pedigrees segregating the disorder in an isolated p...

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Main Authors: Lafrenière, Ronald G., MacDonald, Marcia L. E., Dubé, Marie-Pierre, MacFarlane, Julie, O’Driscoll, Mary, Brais, Bernard, Meilleur, Sébastien, Brinkman, Ryan R., Dadivas, Owen, Pape, Terry, Platon, Christèle, Radomski, Chris, Risler, Jenni, Thompson, Jay, Guerra-Escobio, Ana-Maria, Davar, Gudarz, Breakefield, Xandra O., Pimstone, Simon N., Green, Roger, Pryse-Phillips, William, Goldberg, Y. Paul, Younghusband, H. Banfield, Hayden, Michael R., Sherrington, Robin, Rouleau, Guy A., Samuels, Mark E.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2004
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1181970/
https://ncbi.nlm.nih.gov/pubmed/15060842
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