Thomas L. Fabry, Haskell A. Reich
Biochemical and Biophysical Research Communications
Paper
Validation of GNE:p.M712T identification by melting curve analysis
Abstract
Hereditary inclusion body myopathy/distal myopathy with rimmed vacuoles is an adult onset autosomal recessive muscle-wasting disease common in people of Iranian-Jewish descent, due to the founder allelic variant GNE
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