Article
A stop codon mutation in SCN9A causes lack of pain sensation.
Human molecular genetics - 1 Sept 2007
Ahmad Sultan, Dahllund Leif, Eriksson Anders B, Hellgren Dennis, Karlsson Urban, Lund Per-Eric, Meijer Inge A, Meury Luc, Mills Tracy, Moody Adrian, Morinville Anne, Morten John, O'donnell Dajan, Raynoschek Carina, Salter Hugh, Rouleau Guy A, Krupp Johannes J
Abstract excerpt
The general lack of pain experience is a rare occurrence in humans, and the molecular causes for this phenotype are not well understood. Here we have studied a Canadian family from Newfoundland with members who exhibit a congenital inability to experience pain. We have mapped the locus to a 13.7 Mb region on chromosome 2q (2q24.3-2q31.1). Screening of candidate genes in this region identified a protein-truncating...
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