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Splicing Effects of Mutations in Family CL-11
(A) Analysis of the heterozygous c.200-9G>A mutation. cDNA sequences of the exon 2-exon 3 boundary of wild-type (wt) and patient cDNA are shown (without [P_cDNA] and after subcloning via the TOPO-Vector system [P_cDNA_topo]).
(B) Analysis of the heterozygous c.4959G>C mutation. Electropherograms show the cDNA sequences of LRP4 transcripts encoded by exon 33 to exon 35 of wild-type (wt), and skipping of exon 34 in the patient cDNA.
