DETECTION METHOD FOR GENETIC DISEASE
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United States of America Patent
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Mar 9, 2017
app pub date -
Apr 27, 2015
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Apr 28, 2014
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Abstract
The present invention relates to a detection method for a genetic disease, and specifically relates to detection of disease-causing genes for autosomal recessive inherited Charcot-Marie-Tooth disease (CMT). In the method according to the present invention, a mutation(s) in MME (membrane metallo-endopeptidase) gene, FAT3 (FAT tumor suppressor homolog 3) gene, and/or SELRC1 (Sell repeat containing 1) gene in a biological sample are/is detected.
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