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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...
Autores principales: | Samuels, Mark E, te Morsche, Rene HM, Lynch, Mary E, Drenth, Joost PH |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2008
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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 |
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