Validation of GNE:p.M712T identification by melting curve analysis

Yadira Valles-Ayoub; Chai Saechao; Arman Haghighatgoo; Mehran S. Neshat; Saghi Esfandiarifard; Marvin Pietruszka; Daniel Darvish

doi:10.1089/gte.2007.0034

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01 Mar 2008

Validation of GNE:p.M712T identification by melting curve analysis

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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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