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. 2018 Jan 11;17(4):565–579. doi: 10.1074/mcp.RA117.000437

Table I. Characteristics of primary DEB cells used in this study. n.d.: not detected.

ID Age at biopsy/gender COL7A1 mutation C7 levels (IF analysis) References (report of patients)
DEB 1 8 years/m c.1934delC n.d. (15)
c.1934delC
DEB 2 1 month/f c.425A>G n.d. (15)
c.682 + 1G>A
DEB 3 1 month/m c.425A>G n.d. (14)
c.5261dupC
DEB 4 6 years/f c.425A>G n.d. Patient not reported before
c.682 + 1G>A
DEB 5 1 month/f c.4119 + 1G>C n.d. Patient not reported before
c.8523_8536del
DEB 6 3 years/f c.682 + 1G>A n.d. Patient not reported before
c.5261dupC
DEB 7 1 month/f c.425A>G n.d. (15)
c.425A>G
DEB 8 30 years/m c.426 + 1G>A n.d. (15)
c.1474del11
DEB 9 53 years/m c.425A>G n.d. Patient not reported before
c.425A>G
DEB 10 47 years/m c.425A>G n.d. Patient not reported before
c.425A>G