Fig. 2: Exon 12 of the ACAN gene. | Human Genome Variation

Fig. 2: Exon 12 of the ACAN gene.

From: A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease

Fig. 2

A The black area on the exon 12 denotes various numbers tandem repeat. Variant c.4634delT (black triangle) is reported in this study. B Partial sequence (reverse complemented). The upper panel shows a chromatogram of the proband that had a heterozygous mutation, c.4634delT, Leu1545Profs*11, which is denoted by an arrow. The lower panel shows a chromatogram of the wild-type sequence.

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