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Rene L. Begay et al. BTS 2016;1:344-359 Affected Individuals Carry a Mutation at the Intronic Border of Exon 43 (A) Sanger sequenced chromatogram of healthy.

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Presentation on theme: "Rene L. Begay et al. BTS 2016;1:344-359 Affected Individuals Carry a Mutation at the Intronic Border of Exon 43 (A) Sanger sequenced chromatogram of healthy."— Presentation transcript:

1 Rene L. Begay et al. BTS 2016;1:344-359
Affected Individuals Carry a Mutation at the Intronic Border of Exon 43 (A) Sanger sequenced chromatogram of healthy individual II:3 from family TSFDC031 with a normal FLNC gene and an affected individual from the same family (III:1) showing the FLNC c G>A variant. (B) Real-time polymerase chain reaction of ribonucleic acid isolated from lymphoblastoid human cells for exons 41 to 45 spanning probe showing presence of shortened product (missing 116 nucleotides, exon 43) in an affected patient (A-III:1) and normal product in healthy relatives (H-II:3 and H-III:2). (C) Diagram of normal (upper) and aberrant (lower) splicing; thick, solid line (lower) shows exon 43 being excluded. bp = base pair; nt = nucleotide. Rene L. Begay et al. BTS 2016;1: The Authors

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