https://www.selleckchem.com/products/tpx-0046.html
Sorbitol dehydrogenase gene (SORD) has been identified as a novel causative gene of recessive forms of hereditary neuropathy, including Charcot-Marie-Tooth disease type 2 and distal hereditary motor neuropathy (dHMN). Our findings reveal two novel variants (c.404 A G and c.908 + 1 G C) and one known variant (c.757delG) within SORD in four Chinese dHMN families. Ex vivo cDNA polymerase chain reaction confirmed that c.908 + 1 G C variant was associated with impaired splicing of the SORD transcript. In vitro cell functional
Like
Comment
Share
