https://www.selleckchem.com/products/sbfi-26.html
398_400dupAAT generated a premature stop codon at the mutation site (p.W134 ). A missense c.590G A (p.G197D) mutation was found in a patient from family 4 and caused a defect in pre-mRNA splicing. As a result, two populations of transcripts were detected the majority of them with intron 3 retention (83%), and the minority (17%) being properly spliced transcripts with about 16% of wild-type enzymatic activity. The remaining nine patients from six families carried a previously reported c.1319_1325dupCCCACCC (F443Pfs 24) mutation. Cli
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