Article
Validation of GNE:p.M712T identification by melting curve analysis.
Genetic testing - 1 Mar 2008
Valles-Ayoub Yadira, Saechao Chai, Haghighatgoo Arman, Neshat Mehran S, Esfandiarifard Saghi, Pietruszka Marvin, Darvish Daniel
Abstract excerpt
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:p.M712T. High correlation of disease susceptibility with GNE:p.M712T allows its use as a molecular marker for diagnosis. In this study, we applied and validated the use of melting curve analysis using...
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