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Mini-gene design and quantification. a Minigene design. (A) Exon 10 and flanking genomic sequence was amplified from patient and parent DNA and cloned into the pI-12 splicing reporter vector. (B) Predicted splicing effect if splice site mutation has no effect on WT splicing. (C) Predicted skipping of exon 10 if splice site is disrupted by K333. b Semi-quantitative PCR gel of splicing isoforms of parent harboring the W97C variant and proband harboring both the W97C and K333 variants
