https://www.selleckchem.com/pr....oducts/syrosingopine
To identify the genetic cause in an adult ovarioleukodystrophy patient resistant to diagnosis. We applied whole-exome sequencing (WES) to a vanishing white matter disease patient associated with premature ovarian failure at 26years of age. We functionally tested an intronic variant by RT-PCR on patient's peripheral blood mononuclear cells (PBMC) and by minigene splicing assay. WES analysis identified two novel variants in the EIF2B5 gene c.725AG (p.Tyr242Cys) and an intronic noncanonical mutation (c.1156+13GA). Thi
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