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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

Figure 4

Large genomic duplication in the COL5A1 gene. A) MLPA analysis showed the duplication of exons 1–11 of the COL5A1 gene that was identified using the SALSA MLPA kits P331-A1 (upper panel) and P332-A1 (lower panel). The MLPA results were analyzed using GeneMarker® software. B) Affymetrix Human Mapping GeneChip 6.0 array analysis, which was performed to define the duplication size, revealed an approximately 191 kb duplication, including the COL5A1 proximal promoter region: chr9.hg19:g.(137,440,166_137,442,686)_(137,633,699_137,638,368)dup. The last normal probe (CN_1326371), the first duplicated probe (CN_1326372) at the 5’ end, the last duplicated probe (SNP_A-1952605), and the first normal probe (CN_383563) at the 3’ end define the duplicated area.

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