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Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia

Hereditary erythermalgia is a painful and debilitating genetic disorder associated with mutations in voltage-gated sodium channel Nav1.7. We have previously reported a Canadian family segregating erythermalgia consistently with a dominant genetic etiology. Molecular analysis of the proband from the...

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Detalles Bibliográficos
Autores principales: Samuels, Mark E, te Morsche, Rene HM, Lynch, Mary E, Drenth, Joost PH
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2430949/
https://www.ncbi.nlm.nih.gov/pubmed/18518989
http://dx.doi.org/10.1186/1744-8069-4-21