Open AccessPrimary Erythermalgia as a Sodium Channelopathy
Author(s) -
Joost P.H. Drenth,
René H. M. te Morsche,
Sahar Mansour,
Peter Mortimer
Publication year - 2008
Publication title -
archives of dermatology
Language(s) - English
Resource type - Journals
eISSN - 1538-3652
pISSN - 0003-987X
DOI - 10.1001/archderm.144.3.320
Subject(s) - missense mutation , channelopathy , medicine , sodium channel , erythromelalgia , mutation , exon , genetics , gene , sodium , biology , dermatology , chemistry , organic chemistry
To elucidate the rate of missense mutations in the SCN9A gene (which encodes sodium channel Na(v)1.7) (OMIM 603415) among patients with primary erythermalgia and to examine the possibility that other sodium channels can cause the disease.
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