https://r428inhibitor.com/surg....ery-restoration-of-i
METHODS PAX3 and SOX10 were the main pathogenic genes for WS type I (WS we) and IV (WS IV), respectively; all coding exons of these genes were sequenced on the two probands and their loved ones people. Luciferase reporter assay and co-immunoprecipitation (CO-IP) had been conducted to confirm potential functional effects associated with novel mutations. RESULTS The first proband is a 9 years old girl diagnosed with WS we. A novel PAX3 heterozygous mutation of c.372-373delGA (p.N125fs) ended up
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