Skip to main content
Figure 2 | BMC Medical Genetics

Figure 2

From: A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking

Figure 2

Identification of a novel dinucleotide deletion in the SMED-SL patient. Direct sequencing analysis was carried out for all the coding exons of the DDR2 gene. (A) This panel shows a representative chromatogram of the DNA sequences indicating the c.2468_2469delCT mutation in the affected individuals and their parents. Arrows indicate the position of the c.2468_2469delCT mutation in the patient and one of the heterozygous carriers (B) Multiple sequence alignment of mutant and wild type DDR2 proteins from different species. The S823 residue is highlighted.

Back to article page