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Mutation analysis of the ADAMTS13 in neonatal patients with congenital TTP.
| Case number | Genetic variant | References |
|---|---|---|
| Case 1 | c.2203(exon18)G>T | (5) |
| Case 2 | c.2104(exon17)G>C; c.2281(exon19)G>A | (6) |
| Case 3 | delEx15+16; c.3655C>T | (6) |
| Case 4 | c.415-10G>A; c.824+13C>T; c.2017A>T | (7) |
| Case 5 | c.1192(exon10) C>T; c.2167(exon18) C>A | (8) |
| Case 6 | c.1345(exon 12)C>T; c.4119(exon 29)del | (8) |
| Case 7 | c.3100(exon 24)A>T; c.4143(exon 29)ins A | (12) |
