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When adaptive processes go awry: gain‐of‐function in SCN9A
Author(s) -
Young FBJ
Publication year - 2008
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2007.00922.x
Subject(s) - phenotype , allele , gain of function , biology , genetics , mutation , neuroscience , gene
SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes
Fertleman et al. (2006)
Neuron 52: 767–774