https://www.selleckchem.com/pr....oducts/Benserazide-h
The first novel ~ 10-kb deletion surrounding exon 1 of TMIE along with two previously reported variants co-segregated with families including a frameshift variant c.122_125dup (p.Pro43fs) and a missense variant c.250 C T; p.(Arg84Trp) in exons 2, and 3, respectively. This study increases the mutational spectrum of the TMIE gene and highlights the importance of the large deletion of this gene as a reason for hearing loss. Moreover, an efficient and simple multiplex PCR assay was developed to determine the
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